#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_AAChange	i_ACHILLES_Lineage_Results_Top_Genes	i_Algorithm	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_Codon	i_COSMIC_Gene	i_COSMIC_Gene_Freq	i_COSMIC_Site_Freq	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ChromChange	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Drug_Target	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Exon	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_Genome_Plus_Minus_10_Bp	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_NTotCov	i_NVarCov	i_ORegAnno_bin	i_TTotCov	i_TVarCov	i_Transcript_Id	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_dbSNPPopFreq	i_dbSNP_AF	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification
PRKCZ	5590	hgsc.bcm.edu	37	1	2106687	2106687	+	Missense_Mutation	SNP	C	C	T			TCGA-2Y-A9H8-01A-11D-A38X-10	TCGA-2Y-A9H8-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a8ce4db3-59d7-41a4-bd0d-d6dc39a003e4	ea9d6487-fc5c-429d-9870-af174a03bd4d	g.chr1:2106687C>T	ENST00000400921.2	+	13	1644	c.961C>T	c.(961-963)Cgg>Tgg	p.R321W	PRKCZ_ENST00000400920.1_Missense_Mutation_p.R321W|PRKCZ_ENST00000479263.1_3'UTR	NM_001033581.1	NP_001028753.1	Q05513	KPCZ_HUMAN	protein kinase C, zeta	504	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton reorganization (GO:0031532)|activation of phospholipase D activity (GO:0031584)|activation of protein kinase B activity (GO:0032148)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|establishment of cell polarity (GO:0030010)|inflammatory response (GO:0006954)|insulin receptor signaling pathway (GO:0008286)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|membrane hyperpolarization (GO:0060081)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of apoptotic process (GO:0043066)|negative regulation of hydrolase activity (GO:0051346)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of protein complex assembly (GO:0031333)|neuron projection extension (GO:1990138)|peptidyl-serine phosphorylation (GO:0018105)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of glucose import (GO:0046326)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of interleukin-10 secretion (GO:2001181)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T-helper 2 cell cytokine production (GO:2000553)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|protein heterooligomerization (GO:0051291)|protein kinase C signaling (GO:0070528)|protein localization to plasma membrane (GO:0072659)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vesicle transport along microtubule (GO:0047496)	apical cortex (GO:0045179)|apical plasma membrane (GO:0016324)|axon hillock (GO:0043203)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|myelin sheath abaxonal region (GO:0035748)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)	ATP binding (GO:0005524)|insulin receptor substrate binding (GO:0043560)|potassium channel regulator activity (GO:0015459)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(5)|lung(5)|stomach(1)	18	all_cancers(77;0.000177)|all_epithelial(69;6.41e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.96e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.3e-23)|GBM - Glioblastoma multiforme(42;2.85e-08)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00294)|BRCA - Breast invasive adenocarcinoma(365;0.00493)|STAD - Stomach adenocarcinoma(132;0.00669)|KIRC - Kidney renal clear cell carcinoma(229;0.0411)|Lung(427;0.213)	Tamoxifen(DB00675)	GCTCGGCTGCCGGCCACAGAC	0.572																																					p.R504W		Atlas-SNP	.											.	PRKCZ	84	.	0			c.C1510T						.						46.0	53.0	51.0					1																	2106687		2203	4300	6503	SO:0001583	missense	5590	exon16			GGCTGCCGGCCAC	BC014270	CCDS37.1, CCDS41229.1, CCDS55563.1	1p36.33-p36.2	2009-07-10			ENSG00000067606	ENSG00000067606	2.7.11.1		9412	protein-coding gene	gene with protein product		176982					Standard	NM_001242874		Approved	PKC2	uc001aiq.3	Q05513	OTTHUMG00000001238	ENST00000400921.2:c.961C>T	chr1.hg19:g.2106687C>T	ENSP00000383712:p.Arg321Trp	108.0	0.0		88.0	41.0	NM_002744	A8K4N0|A8MU64|B7Z2J7|E9PCW2|Q15207|Q5SYT5|Q969S4	Missense_Mutation	SNP	ENST00000400921.2	hg19	CCDS41229.1	.	.	.	.	.	.	.	.	.	.	C	19.81	3.896240	0.72639	.	.	ENSG00000067606	ENST00000378567;ENST00000400921;ENST00000461106;ENST00000400920	T;T;T;T	0.54279	0.58;0.58;0.58;0.58	4.97	4.06	0.47325	Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.116916	0.64402	D	0.000018	T	0.65333	0.2681	M	0.78344	2.41	0.35043	D	0.75989	D;D;D;D	0.61080	0.962;0.962;0.962;0.989	P;P;P;P	0.55303	0.67;0.67;0.67;0.773	T	0.76852	-0.2806	10	0.49607	T	0.09	.	12.6853	0.56944	0.0:0.9193:0.0:0.0807	.	400;328;400;504	E9PCW2;B3KUN5;B7Z2J7;Q05513	.;.;.;KPCZ_HUMAN	W	504;321;400;321	ENSP00000367830:R504W;ENSP00000383712:R321W;ENSP00000426412:R400W;ENSP00000383711:R321W	ENSP00000367830:R504W	R	+	1	2	PRKCZ	2096547	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	5.523000	0.67099	1.221000	0.43506	0.638000	0.83543	CGG	.	.		0.572	PRKCZ-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000098533.3	NM_002744	
TMEM39B	55116	hgsc.bcm.edu	37	1	32557607	32557607	+	Missense_Mutation	SNP	G	G	A	rs202154275		TCGA-2Y-A9H8-01A-11D-A38X-10	TCGA-2Y-A9H8-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a8ce4db3-59d7-41a4-bd0d-d6dc39a003e4	ea9d6487-fc5c-429d-9870-af174a03bd4d	g.chr1:32557607G>A	ENST00000336294.5	+	6	1068	c.922G>A	c.(922-924)Gtg>Atg	p.V308M	TMEM39B_ENST00000373634.4_Missense_Mutation_p.V109M|TMEM39B_ENST00000487305.1_3'UTR|TMEM39B_ENST00000456834.2_3'UTR|TMEM39B_ENST00000427288.1_Missense_Mutation_p.V193M	NM_018056.2	NP_060526.2	Q9GZU3	TM39B_HUMAN	transmembrane protein 39B	308						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|lung(5)|ovary(1)|prostate(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				TGTCTGGTTCGTGAAGGTGCG	0.562																																					p.V308M		Atlas-SNP	.											.	TMEM39B	66	.	0			c.G922A						.	G	MET/VAL	0,4406		0,0,2203	66.0	59.0	61.0		922	4.9	1.0	1		61	2,8598	2.2+/-6.3	0,2,4298	yes	missense	TMEM39B	NM_018056.2	21	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	308/493	32557607	2,13004	2203	4300	6503	SO:0001583	missense	55116	exon6			TGGTTCGTGAAGG	AL136695	CCDS351.2	1p35.1	2008-02-05			ENSG00000121775	ENSG00000121775			25510	protein-coding gene	gene with protein product						12477932	Standard	NM_018056		Approved	FLJ10315	uc010ogv.2	Q9GZU3	OTTHUMG00000004020	ENST00000336294.5:c.922G>A	chr1.hg19:g.32557607G>A	ENSP00000338165:p.Val308Met	52.0	0.0		33.0	5.0	NM_018056	B4DKN8|B4DQE6|B4DTN8|D3DPP4|Q6IA44	Missense_Mutation	SNP	ENST00000336294.5	hg19	CCDS351.2	.	.	.	.	.	.	.	.	.	.	G	30	5.056509	0.93793	0.0	2.33E-4	ENSG00000121775	ENST00000336294;ENST00000373634;ENST00000427288	.	.	.	4.95	4.95	0.65309	.	0.115829	0.64402	D	0.000017	T	0.79811	0.4510	M	0.74881	2.28	0.58432	D	0.999998	D;D;D	0.89917	0.997;1.0;0.995	P;D;P	0.91635	0.866;0.999;0.866	T	0.82293	-0.0529	9	0.72032	D	0.01	-13.4165	18.5641	0.91111	0.0:0.0:1.0:0.0	.	308;193;181	Q9GZU3;B4DTN8;Q9NW51	TM39B_HUMAN;.;.	M	308;109;193	.	ENSP00000338165:V308M	V	+	1	0	TMEM39B	32330194	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	9.329000	0.96413	2.462000	0.83206	0.462000	0.41574	GTG	.	.		0.562	TMEM39B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011489.2	NM_018056	
INADL	10207	hgsc.bcm.edu	37	1	62579830	62579830	+	Missense_Mutation	SNP	T	T	G			TCGA-2Y-A9H8-01A-11D-A38X-10	TCGA-2Y-A9H8-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a8ce4db3-59d7-41a4-bd0d-d6dc39a003e4	ea9d6487-fc5c-429d-9870-af174a03bd4d	g.chr1:62579830T>G	ENST00000371158.2	+	35	4681	c.4567T>G	c.(4567-4569)Tac>Gac	p.Y1523D	INADL_ENST00000316485.6_Missense_Mutation_p.Y1553D|INADL_ENST00000545929.1_Missense_Mutation_p.Y168D|INADL_ENST00000543708.1_Missense_Mutation_p.Y337D	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	1523					cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|intracellular signal transduction (GO:0035556)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						TGAGGCACACTACCGGGATGA	0.582																																					p.Y1523D		Atlas-SNP	.											.	INADL	179	.	0			c.T4567G						.						84.0	81.0	82.0					1																	62579830		2203	4300	6503	SO:0001583	missense	10207	exon35			GCACACTACCGGG	AB044807	CCDS617.2	1p31	2008-02-05			ENSG00000132849	ENSG00000132849			28881	protein-coding gene	gene with protein product		603199				9280290, 11374908	Standard	NM_176877		Approved	Cipp, PATJ	uc001dab.3	Q8NI35	OTTHUMG00000008560	ENST00000371158.2:c.4567T>G	chr1.hg19:g.62579830T>G	ENSP00000360200:p.Tyr1523Asp	158.0	0.0		147.0	59.0	NM_176877	O15249|O43742|O60833|Q5VUA5|Q5VUA6|Q5VUA7|Q5VUA8|Q5VUA9|Q5VUB0|Q8WU78|Q9H3N9	Missense_Mutation	SNP	ENST00000371158.2	hg19	CCDS617.2	.	.	.	.	.	.	.	.	.	.	T	15.89	2.967048	0.53507	.	.	ENSG00000132849	ENST00000371158;ENST00000316485;ENST00000371156;ENST00000395513;ENST00000543708;ENST00000545929	T;T;T;T	0.31510	2.28;2.71;2.28;1.49	5.5	4.37	0.52481	PDZ/DHR/GLGF (1);	0.299519	0.27270	N	0.020139	T	0.51736	0.1692	M	0.67953	2.075	0.47153	D	0.999334	P;P;D;D;B;P	0.89917	0.547;0.609;0.999;1.0;0.051;0.698	B;B;D;D;B;P	0.91635	0.374;0.168;0.995;0.999;0.061;0.804	T	0.52426	-0.8577	10	0.72032	D	0.01	.	11.2962	0.49280	0.0:0.071:0.0:0.9289	.	168;337;982;1553;1523;1495	F5GY89;B4DE90;Q8NI35-5;F8W8T2;Q8NI35;Q8NI35-4	.;.;.;.;INADL_HUMAN;.	D	1523;1553;1553;1495;337;168	ENSP00000360200:Y1523D;ENSP00000326199:Y1553D;ENSP00000445790:Y337D;ENSP00000440094:Y168D	ENSP00000326199:Y1553D	Y	+	1	0	INADL	62352418	1.000000	0.71417	0.980000	0.43619	0.988000	0.76386	4.073000	0.57570	0.926000	0.37118	0.460000	0.39030	TAC	.	.		0.582	INADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023639.2	NM_170605	
MSH4	4438	hgsc.bcm.edu	37	1	76349304	76349304	+	Splice_Site	SNP	A	A	C			TCGA-2Y-A9H8-01A-11D-A38X-10	TCGA-2Y-A9H8-10A-01D-A38X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a8ce4db3-59d7-41a4-bd0d-d6dc39a003e4	ea9d6487-fc5c-429d-9870-af174a03bd4d	g.chr1:76349304A>C	ENST00000263187.3	+	15	2010		c.e15-1			NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4						ATP catabolic process (GO:0006200)|chiasma assembly (GO:0051026)|female gamete generation (GO:0007292)|homologous chromosome segregation (GO:0045143)|mismatch repair (GO:0006298)|ovarian follicle development (GO:0001541)|reciprocal meiotic recombination (GO:0007131)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|mismatched DNA binding (GO:0030983)			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						TTTTTTCTTAAGTTCGACCAG	0.303								Mismatch excision repair (MMR)																													.		Atlas-SNP	.											.	MSH4	147	.	0			c.1907-2A>C						.						37.0	39.0	38.0					1																	76349304		2199	4299	6498	SO:0001630	splice_region_variant	4438	exon15			TTCTTAAGTTCGA	U89293	CCDS670.1	1p31	2013-09-12	2013-09-12		ENSG00000057468	ENSG00000057468			7327	protein-coding gene	gene with protein product		602105	"""mutS (E. coli) homolog 4"", ""mutS homolog 4 (E. coli)"""			9299235	Standard	NM_002440		Approved		uc001dhd.2	O15457	OTTHUMG00000009788	ENST00000263187.3:c.1907-1A>C	chr1.hg19:g.76349304A>C		90.0	0.0		126.0	28.0	NM_002440	Q5T4U6|Q8NEB3|Q9UNP8	Splice_Site	SNP	ENST00000263187.3	hg19	CCDS670.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.010945	0.75046	.	.	ENSG00000057468	ENST00000263187	.	.	.	5.57	5.57	0.84162	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.74	0.77887	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MSH4	76121892	1.000000	0.71417	0.979000	0.43373	0.865000	0.49528	8.654000	0.91092	2.107000	0.64212	0.491000	0.48974	.	.	.		0.303	MSH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026983.1	NM_002440	Intron
APCS	325	hgsc.bcm.edu	37	1	159558023	159558023	+	Missense_Mutation	SNP	A	A	G			TCGA-2Y-A9H8-01A-11D-A38X-10	TCGA-2Y-A9H8-10A-01D-A38X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a8ce4db3-59d7-41a4-bd0d-d6dc39a003e4	ea9d6487-fc5c-429d-9870-af174a03bd4d	g.chr1:159558023A>G	ENST00000255040.2	+	2	294	c.197A>G	c.(196-198)tAc>tGc	p.Y66C		NM_001639.3	NP_001630.1	P02743	SAMP_HUMAN	amyloid P component, serum	66	Pentaxin.				acute-phase response (GO:0006953)|chaperone-mediated protein complex assembly (GO:0051131)|innate immune response (GO:0045087)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of exo-alpha-sialidase activity (GO:1903016)|negative regulation of glycoprotein metabolic process (GO:1903019)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral process (GO:0048525)|negative regulation of wound healing (GO:0061045)|protein folding (GO:0006457)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|complement component C1q binding (GO:0001849)|unfolded protein binding (GO:0051082)|virion binding (GO:0046790)			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_hematologic(112;0.0429)					TCTCGTGCCTACAGCCTCTTC	0.413																																					p.Y66C		Atlas-SNP	.											.	APCS	48	.	0			c.A197G						.						116.0	115.0	115.0					1																	159558023		2203	4300	6503	SO:0001583	missense	325	exon2			GTGCCTACAGCCT		CCDS1186.1	1q21-q23	2012-10-02			ENSG00000132703	ENSG00000132703			584	protein-coding gene	gene with protein product	"""pentaxin-related"", ""9.5S alpha-1-glycoprotein"""	104770				2987268	Standard	NM_001639		Approved	SAP, PTX2, MGC88159	uc001ftv.3	P02743	OTTHUMG00000022741	ENST00000255040.2:c.197A>G	chr1.hg19:g.159558023A>G	ENSP00000255040:p.Tyr66Cys	51.0	0.0		170.0	54.0	NM_001639		Missense_Mutation	SNP	ENST00000255040.2	hg19	CCDS1186.1	.	.	.	.	.	.	.	.	.	.	A	10.98	1.503199	0.26949	.	.	ENSG00000132703	ENST00000255040	T	0.63580	-0.05	4.45	4.45	0.53987	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.255216	0.36932	N	0.002326	T	0.72203	0.3431	M	0.86268	2.805	0.09310	N	0.999996	D	0.89917	1.0	D	0.80764	0.994	T	0.65849	-0.6068	10	0.51188	T	0.08	-2.7363	12.0095	0.53278	1.0:0.0:0.0:0.0	.	66	P02743	SAMP_HUMAN	C	66	ENSP00000255040:Y66C	ENSP00000255040:Y66C	Y	+	2	0	APCS	157824647	0.054000	0.20591	0.102000	0.21198	0.006000	0.05464	2.603000	0.46266	1.984000	0.57885	0.533000	0.62120	TAC	.	.		0.413	APCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059024.2	NM_001639	
CFAP45	25790	hgsc.bcm.edu	37	1	159854288	159854288	+	Missense_Mutation	SNP	G	G	A			TCGA-2Y-A9H8-01A-11D-A38X-10	TCGA-2Y-A9H8-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a8ce4db3-59d7-41a4-bd0d-d6dc39a003e4	ea9d6487-fc5c-429d-9870-af174a03bd4d	g.chr1:159854288G>A	ENST00000368099.4	-	7	899	c.835C>T	c.(835-837)Cgg>Tgg	p.R279W	CCDC19_ENST00000426543.2_Missense_Mutation_p.R194W|CCDC19_ENST00000476696.1_5'UTR	NM_012337.2	NP_036469.2														endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			TCCTGCTCCCGCTGCTCAGCA	0.507																																					p.R279W		Atlas-SNP	.											.	CCDC19	79	.	0			c.C835T						.						242.0	225.0	231.0					1																	159854288		2203	4300	6503	SO:0001583	missense	25790	exon7			GCTCCCGCTGCTC																												ENST00000368099.4:c.835C>T	chr1.hg19:g.159854288G>A	ENSP00000357079:p.Arg279Trp	45.0	0.0		56.0	6.0	NM_012337		Missense_Mutation	SNP	ENST00000368099.4	hg19	CCDS30914.1	.	.	.	.	.	.	.	.	.	.	G	17.37	3.371577	0.61624	.	.	ENSG00000213085	ENST00000368099;ENST00000426543	T;T	0.11063	2.81;2.81	4.81	2.88	0.33553	.	0.200040	0.41194	D	0.000930	T	0.13372	0.0324	M	0.62723	1.935	0.32801	D	0.500154	D;D	0.89917	1.0;1.0	D;D	0.63033	0.91;0.91	T	0.02424	-1.1161	9	.	.	.	-17.0808	11.035	0.47795	0.0:0.0:0.5102:0.4897	.	279;279	A8K884;Q9UL16	.;CCD19_HUMAN	W	279;194	ENSP00000357079:R279W;ENSP00000403044:R194W	.	R	-	1	2	CCDC19	158120912	0.998000	0.40836	0.999000	0.59377	0.933000	0.57130	2.357000	0.44125	0.514000	0.28300	-0.169000	0.13324	CGG	.	.		0.507	CCDC19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085979.1		
NCSTN	23385	hgsc.bcm.edu	37	1	160321028	160321028	+	Missense_Mutation	SNP	A	A	G			TCGA-2Y-A9H8-01A-11D-A38X-10	TCGA-2Y-A9H8-10A-01D-A38X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a8ce4db3-59d7-41a4-bd0d-d6dc39a003e4	ea9d6487-fc5c-429d-9870-af174a03bd4d	g.chr1:160321028A>G	ENST00000294785.5	+	6	724	c.599A>G	c.(598-600)aAc>aGc	p.N200S	NCSTN_ENST00000459963.1_Intron|NCSTN_ENST00000535857.1_Intron|NCSTN_ENST00000392212.4_Missense_Mutation_p.N180S|NCSTN_ENST00000368063.1_Missense_Mutation_p.N180S|NCSTN_ENST00000368065.4_Intron	NM_015331.2	NP_056146.1	Q92542	NICA_HUMAN	nicastrin	200					amyloid precursor protein catabolic process (GO:0042987)|apoptotic signaling pathway (GO:0097190)|beta-amyloid metabolic process (GO:0050435)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|myeloid cell homeostasis (GO:0002262)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|protein processing (GO:0016485)|proteolysis (GO:0006508)|T cell proliferation (GO:0042098)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	endopeptidase activity (GO:0004175)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(2)	34	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CAAGATCACAACCTGAGTCAG	0.552																																					p.N200S		Atlas-SNP	.											.	NCSTN	64	.	0			c.A599G						.						161.0	116.0	131.0					1																	160321028		2203	4300	6503	SO:0001583	missense	23385	exon6			ATCACAACCTGAG	AF240468	CCDS1203.1	1q22-q23	2014-09-17			ENSG00000162736	ENSG00000162736			17091	protein-coding gene	gene with protein product		605254				9039502, 10993067	Standard	XM_005245053		Approved	KIAA0253, APH2	uc001fvx.3	Q92542	OTTHUMG00000033110	ENST00000294785.5:c.599A>G	chr1.hg19:g.160321028A>G	ENSP00000294785:p.Asn200Ser	183.0	0.0		283.0	79.0	NM_015331	Q5T207|Q5T208|Q86VV5	Missense_Mutation	SNP	ENST00000294785.5	hg19	CCDS1203.1	.	.	.	.	.	.	.	.	.	.	A	18.46	3.629907	0.67015	.	.	ENSG00000162736	ENST00000294785;ENST00000368063;ENST00000392212	T;T;T	0.72505	-0.66;-0.66;-0.66	4.92	4.92	0.64577	.	0.000000	0.85682	D	0.000000	T	0.81384	0.4811	M	0.86178	2.8	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.84486	0.0608	10	0.66056	D	0.02	-26.4305	12.0472	0.53487	1.0:0.0:0.0:0.0	.	180;200	Q92542-2;Q92542	.;NICA_HUMAN	S	200;180;180	ENSP00000294785:N200S;ENSP00000357042:N180S;ENSP00000376047:N180S	ENSP00000294785:N200S	N	+	2	0	NCSTN	158587652	1.000000	0.71417	1.000000	0.80357	0.585000	0.36419	7.795000	0.85887	2.068000	0.61886	0.533000	0.62120	AAC	.	.		0.552	NCSTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080622.1	NM_015331	
LMOD1	25802	hgsc.bcm.edu	37	1	201868843	201868843	+	Missense_Mutation	SNP	G	G	A	rs368400320		TCGA-2Y-A9H8-01A-11D-A38X-10	TCGA-2Y-A9H8-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a8ce4db3-59d7-41a4-bd0d-d6dc39a003e4	ea9d6487-fc5c-429d-9870-af174a03bd4d	g.chr1:201868843G>A	ENST00000367288.4	-	2	1544	c.1298C>T	c.(1297-1299)aCg>aTg	p.T433M	RP11-307B6.3_ENST00000458139.1_RNA|RP11-307B6.3_ENST00000414927.1_RNA	NM_012134.2	NP_036266.2	P29536	LMOD1_HUMAN	leiomodin 1 (smooth muscle)	433					muscle contraction (GO:0006936)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						CTCCATCTCCGTCTTGCCTCC	0.582																																					p.T433M		Atlas-SNP	.											.	LMOD1	59	.	0			c.C1298T						.	G	MET/THR	0,4252		0,0,2126	79.0	80.0	80.0		1298	4.5	0.9	1		80	1,8495		0,1,4247	no	missense	LMOD1	NM_012134.2	81	0,1,6373	AA,AG,GG		0.0118,0.0,0.0078	probably-damaging	433/601	201868843	1,12747	2126	4248	6374	SO:0001583	missense	25802	exon2			ATCTCCGTCTTGC	X54162	CCDS53457.1	1q32.1	2008-05-22			ENSG00000163431	ENSG00000163431			6647	protein-coding gene	gene with protein product		602715					Standard	NM_012134		Approved	64kD, D1, 1D	uc021phl.1	P29536	OTTHUMG00000035802	ENST00000367288.4:c.1298C>T	chr1.hg19:g.201868843G>A	ENSP00000356257:p.Thr433Met	110.0	0.0		195.0	32.0	NM_012134	B1APV6|C4AMB1|Q68EN2	Missense_Mutation	SNP	ENST00000367288.4	hg19	CCDS53457.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.029613	0.75504	0.0	1.18E-4	ENSG00000163431	ENST00000367288;ENST00000400965;ENST00000412469	D	0.92149	-2.98	4.53	4.53	0.55603	.	0.000000	0.41194	D	0.000925	D	0.94188	0.8135	L	0.47716	1.5	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.995;0.996	D	0.94802	0.7971	10	0.72032	D	0.01	-25.5685	14.7808	0.69766	0.0:0.0:1.0:0.0	.	382;433	B4E3S9;P29536	.;LMOD1_HUMAN	M	433;433;382	ENSP00000356257:T433M	ENSP00000356257:T433M	T	-	2	0	LMOD1	200135466	1.000000	0.71417	0.878000	0.34440	0.769000	0.43574	7.848000	0.86902	2.033000	0.60031	0.650000	0.86243	ACG	.	.		0.582	LMOD1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087085.2		
MIA3	375056	hgsc.bcm.edu	37	1	222791466	222791466	+	Missense_Mutation	SNP	C	C	G	rs560508185		TCGA-2Y-A9H8-01A-11D-A38X-10	TCGA-2Y-A9H8-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a8ce4db3-59d7-41a4-bd0d-d6dc39a003e4	ea9d6487-fc5c-429d-9870-af174a03bd4d	g.chr1:222791466C>G	ENST00000344922.5	+	1	39	c.14C>G	c.(13-15)cCt>cGt	p.P5R	MIA3_ENST00000344507.1_Missense_Mutation_p.P5R|MIA3_ENST00000344441.6_Missense_Mutation_p.P5R|MIA3_ENST00000470521.1_3'UTR	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	5					chondrocyte development (GO:0002063)|collagen fibril organization (GO:0030199)|exocytosis (GO:0006887)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|positive regulation of bone mineralization (GO:0030501)|positive regulation of leukocyte migration (GO:0002687)|protein transport (GO:0015031)|wound healing (GO:0042060)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		GCTGCGGCGCCTGGGCTGCTC	0.766																																					p.P5R		Atlas-SNP	.											.	MIA3	167	.	0			c.C14G						.						2.0	4.0	3.0					1																	222791466		1559	3511	5070	SO:0001583	missense	375056	exon1			CGGCGCCTGGGCT		CCDS41470.1, CCDS73035.1	1p36.33	2012-12-13		2006-07-25	ENSG00000154305	ENSG00000154305			24008	protein-coding gene	gene with protein product	"""C219 reactive peptide"", ""transport and golgi organization"""	613455				15183315	Standard	XM_005273121		Approved	UNQ6077, FLJ39207, KIAA0268, TANGO	uc001hnl.3	Q5JRA6	OTTHUMG00000037543	ENST00000344922.5:c.14C>G	chr1.hg19:g.222791466C>G	ENSP00000340900:p.Pro5Arg	81.0	0.0		135.0	37.0	NM_198551	A8K2S0|A8MT05|A8MT13|B7Z430|Q14083|Q3S4X3|Q5JRA5|Q5JRB0|Q5JRB1|Q5JRB2|Q6UVY8|Q86Y60|Q8N8M5|Q92580	Missense_Mutation	SNP	ENST00000344922.5	hg19	CCDS41470.1	.	.	.	.	.	.	.	.	.	.	C	13.45	2.240026	0.39598	.	.	ENSG00000154305	ENST00000344922;ENST00000344441;ENST00000320831;ENST00000344507	T;T;T	0.33216	3.46;3.46;1.42	4.25	-8.5	0.00927	.	.	.	.	.	T	0.14098	0.0341	L	0.27053	0.805	0.09310	N	0.999995	B	0.09022	0.002	B	0.04013	0.001	T	0.17349	-1.0372	9	0.31617	T	0.26	.	2.9138	0.05745	0.2917:0.191:0.3837:0.1336	.	5	Q5JRA6	MIA3_HUMAN	R	5	ENSP00000340900:P5R;ENSP00000340587:P5R;ENSP00000341348:P5R	ENSP00000325973:P5R	P	+	2	0	MIA3	220858089	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-0.880000	0.04183	-2.270000	0.00683	-0.365000	0.07479	CCT	.	.		0.766	MIA3-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091489.4	NM_198551	
FMN2	56776	hgsc.bcm.edu	37	1	240256479	240256479	+	Missense_Mutation	SNP	C	C	T			TCGA-2Y-A9H8-01A-11D-A38X-10	TCGA-2Y-A9H8-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a8ce4db3-59d7-41a4-bd0d-d6dc39a003e4	ea9d6487-fc5c-429d-9870-af174a03bd4d	g.chr1:240256479C>T	ENST00000319653.9	+	1	1300	c.1070C>T	c.(1069-1071)gCg>gTg	p.A357V		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	357					cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TTTGAGGATGCGCCCCGGGGC	0.731																																					p.A357V		Atlas-SNP	.											.	FMN2	451	.	0			c.C1070T						.						6.0	9.0	8.0					1																	240256479		1867	3810	5677	SO:0001583	missense	56776	exon1			AGGATGCGCCCCG	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.1070C>T	chr1.hg19:g.240256479C>T	ENSP00000318884:p.Ala357Val	43.0	0.0		76.0	12.0	NM_020066	B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	ENST00000319653.9	hg19	CCDS31069.2	.	.	.	.	.	.	.	.	.	.	C	11.96	1.795641	0.31777	.	.	ENSG00000155816	ENST00000319653	T	0.30714	1.52	3.9	3.9	0.45041	.	0.420177	0.22296	N	0.061926	T	0.47507	0.1449	L	0.54323	1.7	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.43491	-0.9388	10	0.56958	D	0.05	.	11.0905	0.48113	0.0:0.8114:0.1886:0.0	.	357	Q9NZ56	FMN2_HUMAN	V	357	ENSP00000318884:A357V	ENSP00000318884:A357V	A	+	2	0	FMN2	238323102	0.987000	0.35691	0.882000	0.34594	0.786000	0.44442	3.068000	0.50018	2.155000	0.67459	0.407000	0.27541	GCG	.	.		0.731	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352	
ROCK2	9475	hgsc.bcm.edu	37	2	11341101	11341101	+	Silent	SNP	T	T	C			TCGA-2Y-A9H8-01A-11D-A38X-10	TCGA-2Y-A9H8-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a8ce4db3-59d7-41a4-bd0d-d6dc39a003e4	ea9d6487-fc5c-429d-9870-af174a03bd4d	g.chr2:11341101T>C	ENST00000315872.6	-	23	3340	c.2892A>G	c.(2890-2892)aaA>aaG	p.K964K	ROCK2_ENST00000401753.1_Silent_p.K721K	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	964					actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of angiogenesis (GO:0016525)|neural tube closure (GO:0001843)|positive regulation of centrosome duplication (GO:0010825)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of circadian rhythm (GO:0042752)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|rhythmic process (GO:0048511)|smooth muscle contraction (GO:0006939)	centrosome (GO:0005813)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole centrosome (GO:0031616)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		TTGTAGCATCTTTTTCCGTAA	0.333																																					p.K964K		Atlas-SNP	.											.	ROCK2	224	.	0			c.A2892G						.						213.0	195.0	201.0					2																	11341101		1853	4085	5938	SO:0001819	synonymous_variant	9475	exon23			AGCATCTTTTTCC	D87931	CCDS42654.1	2p24	2013-01-10			ENSG00000134318	ENSG00000134318	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	10252	protein-coding gene	gene with protein product		604002				9933571	Standard	NM_004850		Approved		uc002rbd.1	O75116	OTTHUMG00000149916	ENST00000315872.6:c.2892A>G	chr2.hg19:g.11341101T>C		108.0	0.0		90.0	5.0	NM_004850	Q53QZ0|Q53SJ7|Q9UQN5	Silent	SNP	ENST00000315872.6	hg19	CCDS42654.1																																																																																			.	.		0.333	ROCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313886.3		
TTC30A	92104	hgsc.bcm.edu	37	2	178482808	178482808	+	Missense_Mutation	SNP	G	G	C			TCGA-2Y-A9H8-01A-11D-A38X-10	TCGA-2Y-A9H8-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a8ce4db3-59d7-41a4-bd0d-d6dc39a003e4	ea9d6487-fc5c-429d-9870-af174a03bd4d	g.chr2:178482808G>C	ENST00000355689.5	-	1	886	c.622C>G	c.(622-624)Ctg>Gtg	p.L208V	AC073834.3_ENST00000357045.4_RNA	NM_152275.3	NP_689488.3	Q86WT1	TT30A_HUMAN	tetratricopeptide repeat domain 30A	208					cilium assembly (GO:0042384)|intraciliary transport (GO:0042073)	cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)				autonomic_ganglia(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169)			ATATGCTTCAGTGCTGAGGCA	0.552																																					p.L208V		Atlas-SNP	.											TTC30A,colon,carcinoma,0,1	TTC30A	60	.	0			c.C622G						.						68.0	67.0	67.0					2																	178482808		2203	4300	6503	SO:0001583	missense	92104	exon1			GCTTCAGTGCTGA	AK024008	CCDS2276.1	2q31.2	2013-01-11			ENSG00000197557	ENSG00000197557		"""Tetratricopeptide (TTC) repeat domain containing"""	25853	protein-coding gene	gene with protein product						12477932	Standard	NM_152275		Approved	FLJ13946	uc002ulo.3	Q86WT1	OTTHUMG00000132528	ENST00000355689.5:c.622C>G	chr2.hg19:g.178482808G>C	ENSP00000347915:p.Leu208Val	84.0	0.0		120.0	29.0	NM_152275	A8K8N0|Q8IVP2	Missense_Mutation	SNP	ENST00000355689.5	hg19	CCDS2276.1	.	.	.	.	.	.	.	.	.	.	G	12.26	1.884810	0.33255	.	.	ENSG00000197557	ENST00000355689	T	0.75938	-0.98	5.78	2.99	0.34606	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.061993	0.64402	D	0.000005	D	0.85102	0.5620	M	0.85373	2.75	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84800	0.0784	10	0.59425	D	0.04	.	9.3125	0.37915	0.2808:0.0:0.7192:0.0	.	208	Q86WT1	TT30A_HUMAN	V	208	ENSP00000347915:L208V	ENSP00000347915:L208V	L	-	1	2	TTC30A	178191054	0.948000	0.32251	0.295000	0.24960	0.660000	0.38997	1.525000	0.35953	0.808000	0.34231	0.549000	0.68633	CTG	.	.		0.552	TTC30A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255728.2	NM_152275	
TTN	7273	hgsc.bcm.edu	37	2	179567285	179567285	+	Nonsense_Mutation	SNP	C	C	T			TCGA-2Y-A9H8-01A-11D-A38X-10	TCGA-2Y-A9H8-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a8ce4db3-59d7-41a4-bd0d-d6dc39a003e4	ea9d6487-fc5c-429d-9870-af174a03bd4d	g.chr2:179567285C>T	ENST00000591111.1	-	105	29602	c.29378G>A	c.(29377-29379)tGg>tAg	p.W9793*	TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.W8866*|TTN_ENST00000589042.1_Nonsense_Mutation_p.W10110*|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron			Q8WZ42	TITIN_HUMAN	titin	13871	Ig-like 79.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCCTTTGTACCATGTTACAAT	0.458																																					p.W10110X		Atlas-SNP	.											.	TTN	18412	.	0			c.G30329A						.						216.0	215.0	215.0					2																	179567285		2013	4181	6194	SO:0001587	stop_gained	7273	exon107			TTGTACCATGTTA	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.29378G>A	chr2.hg19:g.179567285C>T	ENSP00000465570:p.Trp9793*	87.0	0.0		118.0	29.0	NM_001267550	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Nonsense_Mutation	SNP	ENST00000591111.1	hg19		.	.	.	.	.	.	.	.	.	.	C	60	45.622505	0.99987	.	.	ENSG00000155657	ENST00000342992	.	.	.	5.72	5.72	0.89469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.8805	0.96895	0.0:1.0:0.0:0.0	.	.	.	.	X	8866	.	ENSP00000343764:W8866X	W	-	2	0	TTN	179275530	1.000000	0.71417	0.997000	0.53966	0.980000	0.70556	7.818000	0.86416	2.704000	0.92352	0.655000	0.94253	TGG	.	.		0.458	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
ITGA4	3676	hgsc.bcm.edu	37	2	182358128	182358128	+	Silent	SNP	C	C	T			TCGA-2Y-A9H8-01A-11D-A38X-10	TCGA-2Y-A9H8-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a8ce4db3-59d7-41a4-bd0d-d6dc39a003e4	ea9d6487-fc5c-429d-9870-af174a03bd4d	g.chr2:182358128C>T	ENST00000397033.2	+	11	1660	c.1230C>T	c.(1228-1230)atC>atT	p.I410I		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	410					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|chorio-allantoic fusion (GO:0060710)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|face development (GO:0060324)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|negative regulation of protein homodimerization activity (GO:0090074)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha4-beta7 complex (GO:0034669)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)|Tinzaparin(DB06822)	CAGATGGGATCTCGTCAACCT	0.373																																					p.I410I		Atlas-SNP	.											.	ITGA4	142	.	0			c.C1230T						.						106.0	100.0	102.0					2																	182358128		1877	4100	5977	SO:0001819	synonymous_variant	3676	exon11			TGGGATCTCGTCA		CCDS42788.1	2q31-q32	2010-03-23			ENSG00000115232	ENSG00000115232		"""CD molecules"", ""Integrins"""	6140	protein-coding gene	gene with protein product		192975		CD49D		1537388	Standard	NM_000885		Approved	CD49d	uc002unu.3	P13612	OTTHUMG00000154212	ENST00000397033.2:c.1230C>T	chr2.hg19:g.182358128C>T		65.0	0.0		98.0	20.0	NM_000885	D3DPG4|Q7Z4L6	Silent	SNP	ENST00000397033.2	hg19	CCDS42788.1																																																																																			.	.		0.373	ITGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334427.1		
RUFY4	285180	hgsc.bcm.edu	37	2	218939997	218939997	+	Missense_Mutation	SNP	A	A	G			TCGA-2Y-A9H8-01A-11D-A38X-10	TCGA-2Y-A9H8-10A-01D-A38X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a8ce4db3-59d7-41a4-bd0d-d6dc39a003e4	ea9d6487-fc5c-429d-9870-af174a03bd4d	g.chr2:218939997A>G	ENST00000344321.7	+	9	1300	c.782A>G	c.(781-783)tAc>tGc	p.Y261C	RUFY4_ENST00000463872.1_3'UTR|RUFY4_ENST00000441828.2_3'UTR|RUFY4_ENST00000374155.3_Missense_Mutation_p.Y281C	NM_198483.3	NP_940885.2	Q6ZNE9	RUFY4_HUMAN	RUN and FYVE domain containing 4	261							metal ion binding (GO:0046872)			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(1)	10		Renal(207;0.0915)		Epithelial(149;4.11e-06)|all cancers(144;0.000519)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		AAACATAGGTACCCCCAGAGC	0.547																																					p.Y261C		Atlas-SNP	.											.	RUFY4	59	.	0			c.A782G						.						23.0	24.0	24.0					2																	218939997		1917	4132	6049	SO:0001583	missense	285180	exon9			ATAGGTACCCCCA	AK128393		2q35	2007-01-29			ENSG00000188282	ENSG00000188282		"""Zinc fingers, FYVE domain containing"""	24804	protein-coding gene	gene with protein product							Standard	NM_198483		Approved	FLJ46536	uc010fvl.2	Q6ZNE9	OTTHUMG00000155235	ENST00000344321.7:c.782A>G	chr2.hg19:g.218939997A>G	ENSP00000345900:p.Tyr261Cys	259.0	1.0		253.0	116.0	NM_198483	Q6ZR96	Missense_Mutation	SNP	ENST00000344321.7	hg19		.	.	.	.	.	.	.	.	.	.	A	8.611	0.889205	0.17540	.	.	ENSG00000188282	ENST00000344321;ENST00000374155	T;T	0.41065	1.6;1.01	4.64	-3.97	0.04094	.	2.497390	0.01419	N	0.014315	T	0.21427	0.0516	N	0.12182	0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.05146	-1.0903	10	0.35671	T	0.21	0.3247	1.5201	0.02514	0.2703:0.1967:0.361:0.172	.	261	Q6ZNE9	RUFY4_HUMAN	C	261;281	ENSP00000345900:Y261C;ENSP00000363270:Y281C	ENSP00000345900:Y261C	Y	+	2	0	RUFY4	218648242	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-3.932000	0.00331	-1.226000	0.02574	0.383000	0.25322	TAC	.	.		0.547	RUFY4-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_198483	
SPEG	10290	hgsc.bcm.edu	37	2	220348089	220348089	+	Silent	SNP	C	C	A			TCGA-2Y-A9H8-01A-11D-A38X-10	TCGA-2Y-A9H8-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a8ce4db3-59d7-41a4-bd0d-d6dc39a003e4	ea9d6487-fc5c-429d-9870-af174a03bd4d	g.chr2:220348089C>A	ENST00000312358.7	+	30	6036	c.5904C>A	c.(5902-5904)gcC>gcA	p.A1968A	SPEG_ENST00000485813.1_3'UTR|AC053503.11_ENST00000429882.1_RNA	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1968					cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CTGGGGCTGCCACCCCCATGG	0.701																																					p.A1968A		Atlas-SNP	.											.	SPEG	272	.	0			c.C5904A						.						9.0	11.0	11.0					2																	220348089		1812	4014	5826	SO:0001819	synonymous_variant	10290	exon30			GGCTGCCACCCCC	BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"""Immunoglobulin superfamily / I-set domain containing"""	16901	protein-coding gene	gene with protein product		615950	"""aortic preferentially expressed gene 1"""	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.5904C>A	chr2.hg19:g.220348089C>A		65.0	0.0		78.0	38.0	NM_005876	A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Silent	SNP	ENST00000312358.7	hg19	CCDS42824.1																																																																																			.	.		0.701	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	NM_005876	
RBMS3	27303	hgsc.bcm.edu	37	3	29476348	29476348	+	Missense_Mutation	SNP	T	T	A			TCGA-2Y-A9H8-01A-11D-A38X-10	TCGA-2Y-A9H8-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a8ce4db3-59d7-41a4-bd0d-d6dc39a003e4	ea9d6487-fc5c-429d-9870-af174a03bd4d	g.chr3:29476348T>A	ENST00000383767.2	+	2	526	c.190T>A	c.(190-192)Tac>Aac	p.Y64N	RBMS3_ENST00000445033.1_Missense_Mutation_p.Y64N|RBMS3_ENST00000452462.1_Missense_Mutation_p.Y64N|RBMS3_ENST00000434693.2_Missense_Mutation_p.Y63N|RBMS3_ENST00000456853.1_Missense_Mutation_p.Y64N|RBMS3_ENST00000383766.2_Missense_Mutation_p.Y63N|RBMS3_ENST00000273139.9_Missense_Mutation_p.Y64N|RBMS3_ENST00000396583.3_Missense_Mutation_p.Y64N			Q6XE24	RBMS3_HUMAN	RNA binding motif, single stranded interacting protein 3	64	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				positive regulation of translation (GO:0045727)	cytoplasm (GO:0005737)	mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(1)|large_intestine(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	11		Ovarian(412;0.0956)				AACCAACCTGTACATTCGAGG	0.567																																					p.Y64N		Atlas-SNP	.											.	RBMS3	62	.	0			c.T190A						.						245.0	186.0	206.0					3																	29476348		2203	4300	6503	SO:0001583	missense	27303	exon2			AACCTGTACATTC	AF023259	CCDS33724.1, CCDS33725.1, CCDS33726.1, CCDS54557.1, CCDS54558.1	3p24-p23	2013-02-12	2010-04-20		ENSG00000144642	ENSG00000144642		"""RNA binding motif (RRM) containing"""	13427	protein-coding gene	gene with protein product	"""RNA-binding protein"""	605786	"""RNA binding motif, single stranded interacting protein"""			10675610	Standard	NM_001003793		Approved		uc003cel.3	Q6XE24	OTTHUMG00000155699	ENST00000383767.2:c.190T>A	chr3.hg19:g.29476348T>A	ENSP00000373277:p.Tyr64Asn	278.0	1.0		329.0	139.0	NM_001003793	A8K9S4|B7ZL17|G5E9J9|O75876|Q17RI0|Q6XE23	Missense_Mutation	SNP	ENST00000383767.2	hg19	CCDS33724.1	.	.	.	.	.	.	.	.	.	.	T	28.2	4.900007	0.92035	.	.	ENSG00000144642	ENST00000434693;ENST00000396583;ENST00000383767;ENST00000445033;ENST00000273139;ENST00000383766;ENST00000452462;ENST00000456853	T;T;T;T;T;T;T;T	0.20332	2.08;2.08;2.08;2.08;2.08;2.08;2.08;2.08	5.63	5.63	0.86233	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.53867	0.1823	M	0.88377	2.95	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;1.0;1.0	T	0.62253	-0.6893	9	.	.	.	.	15.8275	0.78725	0.0:0.0:0.0:1.0	.	64;64;63;64	G5E9J9;Q6XE24-2;Q6XE24-3;Q6XE24	.;.;.;RBMS3_HUMAN	N	63;64;64;64;64;63;64;64	ENSP00000395592:Y63N;ENSP00000379828:Y64N;ENSP00000373277:Y64N;ENSP00000391934:Y64N;ENSP00000273139:Y64N;ENSP00000373276:Y63N;ENSP00000397926:Y64N;ENSP00000400519:Y64N	.	Y	+	1	0	RBMS3	29451352	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.036000	0.88901	2.142000	0.66516	0.533000	0.62120	TAC	.	.		0.567	RBMS3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000341306.1	NM_001003792	
ULK4	54986	hgsc.bcm.edu	37	3	41607592	41607592	+	Silent	SNP	G	G	A			TCGA-2Y-A9H8-01A-11D-A38X-10	TCGA-2Y-A9H8-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a8ce4db3-59d7-41a4-bd0d-d6dc39a003e4	ea9d6487-fc5c-429d-9870-af174a03bd4d	g.chr3:41607592G>A	ENST00000301831.4	-	32	3612	c.3150C>T	c.(3148-3150)acC>acT	p.T1050T		NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	1050					cilium morphogenesis (GO:0060271)|epithelial cilium movement (GO:0003351)|microtubule cytoskeleton organization (GO:0000226)|regulation of JNK cascade (GO:0046328)|regulation of MAPK cascade (GO:0043408)|regulation of neuron migration (GO:2001222)|regulation of neuron projection development (GO:0010975)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein kinase C signaling (GO:0090036)|ventricular system development (GO:0021591)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		CACTTTGCATGGTATTACCCA	0.353																																					p.T1050T		Atlas-SNP	.											.	ULK4	150	.	0			c.C3150T						.						148.0	136.0	140.0					3																	41607592		1900	4127	6027	SO:0001819	synonymous_variant	54986	exon32			TTGCATGGTATTA	AK000581	CCDS43071.1	3p22.1	2013-07-02	2013-07-02		ENSG00000168038	ENSG00000168038			15784	protein-coding gene	gene with protein product			"""unc-51-like kinase 4 (C. elegans)"""			12477932	Standard	NM_017886		Approved	FLJ20574, REC01035, FAM7C1	uc003ckv.4	Q96C45	OTTHUMG00000156210	ENST00000301831.4:c.3150C>T	chr3.hg19:g.41607592G>A		85.0	0.0		104.0	28.0	NM_017886	A6NF15|Q8IW79|Q9NWV6|Q9UF96	Silent	SNP	ENST00000301831.4	hg19	CCDS43071.1																																																																																			.	.		0.353	ULK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343490.1	XM_929989	
DNAH1	25981	hgsc.bcm.edu	37	3	52419370	52419370	+	Silent	SNP	G	G	A			TCGA-2Y-A9H8-01A-11D-A38X-10	TCGA-2Y-A9H8-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a8ce4db3-59d7-41a4-bd0d-d6dc39a003e4	ea9d6487-fc5c-429d-9870-af174a03bd4d	g.chr3:52419370G>A	ENST00000420323.2	+	54	8793	c.8532G>A	c.(8530-8532)gaG>gaA	p.E2844E		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2844	Stalk. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GCACTTCTGAGGATGTAGCCA	0.602											OREG0015612	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.E2844E		Atlas-SNP	.											.	DNAH1	534	.	0			c.G8532A						.						52.0	60.0	58.0					3																	52419370		2052	4036	6088	SO:0001819	synonymous_variant	25981	exon54			TTCTGAGGATGTA	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	2940	protein-coding gene	gene with protein product		603332	"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.8532G>A	chr3.hg19:g.52419370G>A		111.0	0.0	984	99.0	54.0	NM_015512	B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Silent	SNP	ENST00000420323.2	hg19	CCDS46842.1																																																																																			.	.		0.602	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512	
ABI3BP	25890	hgsc.bcm.edu	37	3	100508351	100508351	+	Missense_Mutation	SNP	C	C	G			TCGA-2Y-A9H8-01A-11D-A38X-10	TCGA-2Y-A9H8-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a8ce4db3-59d7-41a4-bd0d-d6dc39a003e4	ea9d6487-fc5c-429d-9870-af174a03bd4d	g.chr3:100508351C>G	ENST00000284322.5	-	24	2085	c.1976G>C	c.(1975-1977)aGa>aCa	p.R659T	ABI3BP_ENST00000383691.4_Missense_Mutation_p.R613T|ABI3BP_ENST00000471714.1_Missense_Mutation_p.R1336T	NM_015429.3	NP_056244.2	Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	659	Pro-rich.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular space (GO:0005615)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						AGTATAAAATCTGTGTGGCGC	0.428																																					p.R659T		Atlas-SNP	.											.	ABI3BP	305	.	0			c.G1976C						.						71.0	65.0	67.0					3																	100508351		1838	4094	5932	SO:0001583	missense	25890	exon24			TAAAATCTGTGTG	AB056106	CCDS46880.1	3q12.2	2013-02-11	2008-09-12		ENSG00000154175	ENSG00000154175		"""Fibronectin type III domain containing"""	17265	protein-coding gene	gene with protein product	"""target of Nesh-SH3"""	606279				11501947	Standard	NM_015429		Approved	NESHBP, DKFZP586L2024, TARSH	uc003dun.3	Q7Z7G0	OTTHUMG00000159094	ENST00000284322.5:c.1976G>C	chr3.hg19:g.100508351C>G	ENSP00000284322:p.Arg659Thr	53.0	0.0		93.0	29.0	NM_015429	B3KSL4|Q6ZW20|Q6ZW22|Q9C082|Q9UFI6	Missense_Mutation	SNP	ENST00000284322.5	hg19	CCDS46880.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	13.53|13.53|13.53	2.263853|2.263853|2.263853	0.39995|0.39995|0.39995	.|.|.	.|.|.	ENSG00000154175|ENSG00000154175|ENSG00000154175	ENST00000495591;ENST00000471901|ENST00000497395|ENST00000471714;ENST00000284322;ENST00000383692;ENST00000429331;ENST00000383691;ENST00000486770	.|.|T;T;T	.|.|0.52295	.|.|2.2;0.67;1.62	5.7|5.7|5.7	4.6|4.6|4.6	0.57074|0.57074|0.57074	.|.|.	.|.|0.317635	.|.|0.33591	.|.|N	.|.|0.004746	T|T|T	0.49201|0.49201|0.49201	0.1543|0.1543|0.1543	L|L|L	0.51422|0.51422|0.51422	1.61|1.61|1.61	0.24137|0.24137|0.24137	N|N|N	0.995746|0.995746|0.995746	.|.|D;P;D;D	.|.|0.65815	.|.|0.995;0.893;0.995;0.986	.|.|P;P;P;P	.|.|0.56278	.|.|0.795;0.504;0.791;0.784	T|T|T	0.38735|0.38735|0.38735	-0.9647|-0.9647|-0.9647	5|5|10	.|.|0.17832	.|.|T	.|.|0.49	-24.5682|-24.5682|-24.5682	7.3993|7.3993|7.3993	0.26954|0.26954|0.26954	0.0:0.8592:0.0:0.1408|0.0:0.8592:0.0:0.1408|0.0:0.8592:0.0:0.1408	.|.|.	.|.|613;659;1336;343	.|.|B4DSV9;Q7Z7G0;D3YTG3;D3YTD6	.|.|.;TARSH_HUMAN;.;.	H|H|T	715;239|74|1336;659;343;45;613;71	.|.|ENSP00000420524:R1336T;ENSP00000284322:R659T;ENSP00000373189:R613T	.|.|ENSP00000284322:R659T	D|Q|R	-|-|-	1|3|2	0|2|0	ABI3BP|ABI3BP|ABI3BP	101991041|101991041|101991041	0.208000|0.208000|0.208000	0.23494|0.23494|0.23494	0.924000|0.924000|0.924000	0.36721|0.36721|0.36721	0.098000|0.098000|0.098000	0.18820|0.18820|0.18820	1.846000|1.846000|1.846000	0.39289|0.39289|0.39289	2.852000|2.852000|2.852000	0.98041|0.98041|0.98041	0.591000|0.591000|0.591000	0.81541|0.81541|0.81541	GAT|CAG|AGA	.	.		0.428	ABI3BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353260.1		
RETNLB	84666	hgsc.bcm.edu	37	3	108474658	108474658	+	Missense_Mutation	SNP	G	G	T			TCGA-2Y-A9H8-01A-11D-A38X-10	TCGA-2Y-A9H8-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a8ce4db3-59d7-41a4-bd0d-d6dc39a003e4	ea9d6487-fc5c-429d-9870-af174a03bd4d	g.chr3:108474658G>T	ENST00000295755.6	-	3	501	c.303C>A	c.(301-303)gaC>gaA	p.D101E	RETNLB_ENST00000482939.1_Intron	NM_032579.2	NP_115968.1	Q9BQ08	RETNB_HUMAN	resistin like beta	101					cell proliferation (GO:0008283)	extracellular region (GO:0005576)				endometrium(1)|kidney(3)|lung(10)|prostate(1)|skin(1)	16						CAGTGGTCCAGTCCACCACAC	0.567																																					p.D101E		Atlas-SNP	.											.	RETNLB	38	.	0			c.C303A						.						101.0	95.0	97.0					3																	108474658		2203	4300	6503	SO:0001583	missense	84666	exon3			GGTCCAGTCCACC	AF290873	CCDS2953.1	3q13.1	2008-02-05			ENSG00000163515	ENSG00000163515			20388	protein-coding gene	gene with protein product		605645				10921885, 12574343	Standard	NM_032579		Approved	HXCP2, FIZZ2, RELMb	uc003dxh.2	Q9BQ08	OTTHUMG00000159393	ENST00000295755.6:c.303C>A	chr3.hg19:g.108474658G>T	ENSP00000295755:p.Asp101Glu	330.0	2.0		278.0	175.0	NM_032579	Q14D27	Missense_Mutation	SNP	ENST00000295755.6	hg19	CCDS2953.1	.	.	.	.	.	.	.	.	.	.	G	15.12	2.739584	0.49045	.	.	ENSG00000163515	ENST00000295755	T	0.61742	0.08	4.14	-1.09	0.09904	.	0.130837	0.33772	N	0.004572	T	0.49355	0.1552	M	0.75085	2.285	0.28303	N	0.923033	P	0.51240	0.943	B	0.41332	0.354	T	0.52215	-0.8605	10	0.87932	D	0	-13.6635	4.9206	0.13867	0.3737:0.1487:0.4776:0.0	.	101	Q9BQ08	RETNB_HUMAN	E	101	ENSP00000295755:D101E	ENSP00000295755:D101E	D	-	3	2	RETNLB	109957348	1.000000	0.71417	0.557000	0.28306	0.404000	0.30871	0.754000	0.26390	-0.510000	0.06523	0.655000	0.94253	GAC	.	.		0.567	RETNLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355093.1		
EPHB3	2049	hgsc.bcm.edu	37	3	184295691	184295691	+	Missense_Mutation	SNP	G	G	T			TCGA-2Y-A9H8-01A-11D-A38X-10	TCGA-2Y-A9H8-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a8ce4db3-59d7-41a4-bd0d-d6dc39a003e4	ea9d6487-fc5c-429d-9870-af174a03bd4d	g.chr3:184295691G>T	ENST00000330394.2	+	8	2097	c.1645G>T	c.(1645-1647)Ggg>Tgg	p.G549W	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	549					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell migration (GO:0016477)|central nervous system projection neuron axonogenesis (GO:0021952)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|digestive tract morphogenesis (GO:0048546)|ephrin receptor signaling pathway (GO:0048013)|palate development (GO:0060021)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of axonogenesis (GO:0050770)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell-cell adhesion (GO:0022407)|regulation of Rac GTPase activity (GO:0032314)|retinal ganglion cell axon guidance (GO:0031290)|substrate adhesion-dependent cell spreading (GO:0034446)|thymus development (GO:0048538)|urogenital system development (GO:0001655)	cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|ephrin receptor activity (GO:0005003)			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			TCCAGGCTCTGGGGCCCAGCA	0.632																																					p.G549W		Atlas-SNP	.											.	EPHB3	114	.	0			c.G1645T						.						78.0	79.0	79.0					3																	184295691		2203	4300	6503	SO:0001583	missense	2049	exon8			GGCTCTGGGGCCC	X75208	CCDS3268.1	3q27.1	2013-09-19	2004-10-28		ENSG00000182580	ENSG00000182580		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3394	protein-coding gene	gene with protein product		601839	"""EphB3"""	ETK2		8397371	Standard	NM_004443		Approved	Hek2, Tyro6	uc003foz.3	P54753	OTTHUMG00000156710	ENST00000330394.2:c.1645G>T	chr3.hg19:g.184295691G>T	ENSP00000332118:p.Gly549Trp	74.0	0.0		67.0	20.0	NM_004443	Q7Z740	Missense_Mutation	SNP	ENST00000330394.2	hg19	CCDS3268.1	.	.	.	.	.	.	.	.	.	.	G	13.48	2.249200	0.39797	.	.	ENSG00000182580	ENST00000330394	T	0.74737	-0.87	5.04	3.22	0.36961	.	0.625953	0.14572	N	0.311408	T	0.66036	0.2749	L	0.39898	1.24	0.09310	N	1	D	0.53885	0.963	P	0.47044	0.535	T	0.55585	-0.8118	10	0.40728	T	0.16	.	4.2542	0.10708	0.2705:0.1763:0.5532:0.0	.	549	P54753	EPHB3_HUMAN	W	549	ENSP00000332118:G549W	ENSP00000332118:G549W	G	+	1	0	EPHB3	185778385	0.907000	0.30839	0.125000	0.21846	0.790000	0.44656	1.286000	0.33273	0.510000	0.28216	0.448000	0.29417	GGG	.	.		0.632	EPHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345413.1	NM_004443	
ATP13A4	84239	hgsc.bcm.edu	37	3	193120567	193120567	+	Missense_Mutation	SNP	C	C	A	rs200859894		TCGA-2Y-A9H8-01A-11D-A38X-10	TCGA-2Y-A9H8-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a8ce4db3-59d7-41a4-bd0d-d6dc39a003e4	ea9d6487-fc5c-429d-9870-af174a03bd4d	g.chr3:193120567C>A	ENST00000342695.4	-	30	3787	c.3465G>T	c.(3463-3465)caG>caT	p.Q1155H	ATP13A4_ENST00000482964.1_5'UTR|ATP13A4_ENST00000400270.2_Missense_Mutation_p.Q171H|ATP13A4_ENST00000392443.3_Missense_Mutation_p.Q1136H	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	1155						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)	p.Q1155H(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		CCAAGTCCCTCTGCCATATCC	0.468																																					p.Q1155H		Atlas-SNP	.											ATP13A4,colon,carcinoma,0,1	ATP13A4	154	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3465T						.						88.0	86.0	87.0					3																	193120567		2203	4300	6503	SO:0001583	missense	84239	exon30			GTCCCTCTGCCAT	AK095277	CCDS3304.2	3q29	2010-04-20			ENSG00000127249	ENSG00000127249		"""ATPases / P-type"""	25422	protein-coding gene	gene with protein product		609556				14702039, 12975309	Standard	XM_005247829		Approved	DKFZp761I1011, FLJ37958	uc003ftd.3	Q4VNC1	OTTHUMG00000074067	ENST00000342695.4:c.3465G>T	chr3.hg19:g.193120567C>A	ENSP00000339182:p.Gln1155His	45.0	0.0		72.0	22.0	NM_032279	B7WPC7|Q6UY23|Q8N1Q9|Q9H043	Missense_Mutation	SNP	ENST00000342695.4	hg19	CCDS3304.2	.	.	.	.	.	.	.	.	.	.	C	16.69	3.193252	0.58017	.	.	ENSG00000127249	ENST00000400270;ENST00000392443;ENST00000342695	T;T;T	0.63417	-0.04;-0.04;-0.04	5.0	3.17	0.36434	.	0.094778	0.45606	N	0.000345	T	0.68997	0.3062	L	0.54323	1.7	0.80722	D	1	D	0.76494	0.999	D	0.75020	0.985	T	0.66340	-0.5948	10	0.51188	T	0.08	-10.8733	5.6238	0.17470	0.0:0.6601:0.1633:0.1765	.	1155	Q4VNC1	AT134_HUMAN	H	171;1136;1155	ENSP00000383129:Q171H;ENSP00000376238:Q1136H;ENSP00000339182:Q1155H	ENSP00000339182:Q1155H	Q	-	3	2	ATP13A4	194603261	0.980000	0.34600	0.980000	0.43619	0.919000	0.55068	0.715000	0.25822	0.602000	0.29896	-0.223000	0.12442	CAG	.	C|1.000;T|0.000		0.468	ATP13A4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157244.4	NM_032279	
ZGRF1	55345	hgsc.bcm.edu	37	4	113527240	113527240	+	Missense_Mutation	SNP	G	G	A			TCGA-2Y-A9H8-01A-11D-A38X-10	TCGA-2Y-A9H8-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a8ce4db3-59d7-41a4-bd0d-d6dc39a003e4	ea9d6487-fc5c-429d-9870-af174a03bd4d	g.chr4:113527240G>A	ENST00000505019.1	-	9	2851	c.2726C>T	c.(2725-2727)tCc>tTc	p.S909F	C4orf21_ENST00000309071.5_Missense_Mutation_p.S909F	NM_018392.4	NP_060862.3	Q86YA3	ZGRF1_HUMAN		909						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)	p.S909Y(2)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		ACTTCCCGAGGAAGAGAACTA	0.323																																					p.S909F		Atlas-SNP	.											C4orf21_ENST00000505019,rectum,carcinoma,0,2	C4orf21	223	.	2	Substitution - Missense(2)	large_intestine(2)	c.C2726T						.						66.0	75.0	72.0					4																	113527240		2203	4299	6502	SO:0001583	missense	55345	exon9			CCCGAGGAAGAGA																												ENST00000505019.1:c.2726C>T	chr4.hg19:g.113527240G>A	ENSP00000424737:p.Ser909Phe	78.0	0.0		85.0	26.0	NM_018392	B3KQX2|B4DSN6|B4DYU8|E9PDE1|G5EA02|Q6ZU11|Q9NSW3|Q9NUJ4	Missense_Mutation	SNP	ENST00000505019.1	hg19		.	.	.	.	.	.	.	.	.	.	G	14.92	2.680284	0.47886	.	.	ENSG00000138658	ENST00000505019;ENST00000309071	D;T	0.84070	-1.8;1.69	5.03	5.03	0.67393	.	1.159930	0.06414	N	0.721095	D	0.86887	0.6041	L	0.47716	1.5	0.80722	D	1	D;P	0.55385	0.971;0.95	P;P	0.54401	0.751;0.735	T	0.79815	-0.1644	10	0.72032	D	0.01	5.5705	13.8469	0.63472	0.0:0.0:1.0:0.0	.	909;909	Q86YA3;G5EA02	CD021_HUMAN;.	F	909	ENSP00000424737:S909F;ENSP00000309095:S909F	ENSP00000309095:S909F	S	-	2	0	C4orf21	113746689	0.997000	0.39634	0.457000	0.27056	0.840000	0.47671	3.421000	0.52742	2.315000	0.78130	0.650000	0.86243	TCC	.	.		0.323	C4orf21-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000256413.1		
MARCH1	55016	hgsc.bcm.edu	37	4	165118848	165118848	+	Intron	SNP	G	G	A			TCGA-2Y-A9H8-01A-11D-A38X-10	TCGA-2Y-A9H8-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a8ce4db3-59d7-41a4-bd0d-d6dc39a003e4	ea9d6487-fc5c-429d-9870-af174a03bd4d	g.chr4:165118848G>A	ENST00000503008.1	-	2	864				MARCH1_ENST00000514618.1_Intron|MARCH1_ENST00000508725.1_Intron	NM_001166373.1	NP_001159845.1	Q8TCQ1	MARH1_HUMAN	membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase						antigen processing and presentation of peptide antigen via MHC class II (GO:0002495)|immune response (GO:0006955)|protein polyubiquitination (GO:0000209)	cytoplasmic vesicle (GO:0031410)|early endosome membrane (GO:0031901)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	ligase activity (GO:0016874)|MHC protein binding (GO:0042287)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	36	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				GAATGAATCCGTCTGCCCATC	0.552																																					p.R6W		Atlas-SNP	.											ANP32C,bladder,carcinoma,0,2	ANP32C	59	.	0			c.C16T						.						97.0	100.0	99.0					4																	165118848		2203	4300	6503	SO:0001627	intron_variant	23520	exon1			GAATCCGTCTGCC	AK000675	CCDS3806.1, CCDS54814.1	4q32.2	2013-01-09	2012-02-23			ENSG00000145416		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	26077	protein-coding gene	gene with protein product		613331	"""membrane-associated ring finger (C3HC4) 1"""			14722266	Standard	NM_017923		Approved	FLJ20668, MARCH-I, RNF171	uc003iqs.2	Q8TCQ1		ENST00000503008.1:c.113-86034C>T	chr4.hg19:g.165118848G>A		66.0	0.0		71.0	22.0	NM_012403	D3DP29|Q9NWR0	Missense_Mutation	SNP	ENST00000503008.1	hg19	CCDS54814.1																																																																																			.	.		0.552	MARCH1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364493.2	NM_017923	
HELT	391723	hgsc.bcm.edu	37	4	185940140	185940140	+	Intron	SNP	G	G	A			TCGA-2Y-A9H8-01A-11D-A38X-10	TCGA-2Y-A9H8-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a8ce4db3-59d7-41a4-bd0d-d6dc39a003e4	ea9d6487-fc5c-429d-9870-af174a03bd4d	g.chr4:185940140G>A	ENST00000515777.1	+	1	115				HELT_ENST00000505610.1_Intron|HELT_ENST00000338875.4_Missense_Mutation_p.A20T			A6NFD8	HELT_HUMAN	helt bHLH transcription factor						central nervous system development (GO:0007417)|GABAergic neuron differentiation in basal ganglia (GO:0021858)|multicellular organism growth (GO:0035264)|multicellular organismal aging (GO:0010259)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|suckling behavior (GO:0001967)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	14		all_lung(41;9.65e-12)|Lung NSC(41;1.64e-11)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;8.92e-26)|Epithelial(43;3.02e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-11)|Colorectal(24;4.79e-05)|BRCA - Breast invasive adenocarcinoma(30;7.72e-05)|GBM - Glioblastoma multiforme(59;0.000274)|COAD - Colon adenocarcinoma(29;0.000362)|STAD - Stomach adenocarcinoma(60;0.000756)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		TGGCACTTGCGCCCTGGTGGT	0.632																																					p.A20T		Atlas-SNP	.											.	HELT	34	.	0			c.G58A						.						87.0	71.0	76.0					4																	185940140		2203	4300	6503	SO:0001627	intron_variant	391723	exon1			ACTTGCGCCCTGG	BC144567	CCDS75214.1, CCDS75215.1	4q35.1	2014-07-17	2011-09-12		ENSG00000187821	ENSG00000187821		"""Basic helix-loop-helix proteins"""	33783	protein-coding gene	gene with protein product	"""megane bHLH factor"", ""HES-like"""		"""Hey-like transcription factor (zebrafish)"", ""HES/HEY-like transcription factor"""			14764602, 17611227	Standard	XM_005262989		Approved	HESL, HCM1228, Mgn, bHLHb44, MEGANE	uc011ckq.2	A6NFD8	OTTHUMG00000160484	ENST00000515777.1:c.27+31G>A	chr4.hg19:g.185940140G>A		167.0	0.0		138.0	86.0	NM_001029887	B2RTS5|B7ZMI7|B7ZMI8	Missense_Mutation	SNP	ENST00000515777.1	hg19		.	.	.	.	.	.	.	.	.	.	G	8.592	0.884735	0.17540	.	.	ENSG00000187821	ENST00000338875	T	0.31769	1.48	4.73	4.73	0.59995	.	0.118798	0.30003	N	0.010643	T	0.14830	0.0358	N	0.08118	0	0.23731	N	0.996996	P	0.47545	0.897	B	0.37692	0.256	T	0.10941	-1.0608	10	0.42905	T	0.14	.	11.4233	0.49996	0.0:0.2382:0.7618:0.0	.	20	A6NFD8	HELT_HUMAN	T	20	ENSP00000343464:A20T	ENSP00000343464:A20T	A	+	1	0	HELT	186177134	1.000000	0.71417	0.996000	0.52242	0.224000	0.24922	2.353000	0.44089	2.473000	0.83533	0.561000	0.74099	GCC	.	.		0.632	HELT-002	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000360792.1	NM_001300781	
BDP1	55814	hgsc.bcm.edu	37	5	70782327	70782327	+	Silent	SNP	T	T	C			TCGA-2Y-A9H8-01A-11D-A38X-10	TCGA-2Y-A9H8-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a8ce4db3-59d7-41a4-bd0d-d6dc39a003e4	ea9d6487-fc5c-429d-9870-af174a03bd4d	g.chr5:70782327T>C	ENST00000358731.4	+	9	1349	c.1086T>C	c.(1084-1086)ttT>ttC	p.F362F	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	362	Required for phosphorylation by CSNK2A1.				gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		AGCGCCCTTTTGACTTCGATT	0.294																																					p.F362F		Atlas-SNP	.											.	BDP1	204	.	0			c.T1086C						.						64.0	62.0	63.0					5																	70782327		1793	4061	5854	SO:0001819	synonymous_variant	55814	exon9			CCCTTTTGACTTC	AF298151	CCDS43328.1	5q12-q13	2008-02-05	2001-11-29	2001-11-30	ENSG00000145734	ENSG00000145734			13652	protein-coding gene	gene with protein product		607012	"""TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1"""	TFNR, TAF3B1		11214970, 11040218	Standard	NM_018429		Approved	TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241	uc003kbp.1	A6H8Y1	OTTHUMG00000162506	ENST00000358731.4:c.1086T>C	chr5.hg19:g.70782327T>C		239.0	0.0		321.0	79.0	NM_018429	Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Silent	SNP	ENST00000358731.4	hg19	CCDS43328.1																																																																																			.	.		0.294	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374681.2	NM_018429	
IER3	8870	hgsc.bcm.edu	37	6	30712143	30712143	+	Silent	SNP	G	G	A			TCGA-2Y-A9H8-01A-11D-A38X-10	TCGA-2Y-A9H8-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a8ce4db3-59d7-41a4-bd0d-d6dc39a003e4	ea9d6487-fc5c-429d-9870-af174a03bd4d	g.chr6:30712143G>A	ENST00000259874.5	-	1	188	c.153C>T	c.(151-153)cgC>cgT	p.R51R	FLOT1_ENST00000456573.2_5'Flank|XXbac-BPG252P9.10_ENST00000607333.1_RNA|FLOT1_ENST00000470643.1_5'Flank|FLOT1_ENST00000376389.3_5'Flank|IER3_ENST00000376377.2_Silent_p.R51R	NM_003897.3	NP_003888.2	P46695	IEX1_HUMAN	immediate early response 3	51					anatomical structure morphogenesis (GO:0009653)|apoptotic process (GO:0006915)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glycolytic process (GO:0045820)|negative regulation of inflammatory response (GO:0050728)|negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901029)|negative regulation of systemic arterial blood pressure (GO:0003085)|positive regulation of protein catabolic process (GO:0045732)|regulation of DNA repair (GO:0006282)|regulation of nucleocytoplasmic transport (GO:0046822)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of response to DNA damage stimulus (GO:2001020)|response to protozoan (GO:0001562)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)				NS(1)	1						AGGCGCTGGGGCGCCCGGCAG	0.736																																					p.R51R		Atlas-SNP	.											.	IER3	5	.	0			c.C153T						.						9.0	13.0	12.0					6																	30712143		1214	2513	3727	SO:0001819	synonymous_variant	8870	exon1			GCTGGGGCGCCCG	AF083421	CCDS4689.1	6p21.3	2010-02-17			ENSG00000137331	ENSG00000137331			5392	protein-coding gene	gene with protein product		602996				8603392, 9703517	Standard	NM_003897		Approved	IEX-1, DIF-2, PRG1, IEX-1L	uc003nrn.3	P46695	OTTHUMG00000031265	ENST00000259874.5:c.153C>T	chr6.hg19:g.30712143G>A		143.0	0.0		224.0	53.0	NM_003897	Q5SU30|Q92691|Q93044	Silent	SNP	ENST00000259874.5	hg19	CCDS4689.1																																																																																			.	.		0.736	IER3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076578.2		
NOX3	50508	hgsc.bcm.edu	37	6	155776002	155776002	+	Missense_Mutation	SNP	C	C	T			TCGA-2Y-A9H8-01A-11D-A38X-10	TCGA-2Y-A9H8-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a8ce4db3-59d7-41a4-bd0d-d6dc39a003e4	ea9d6487-fc5c-429d-9870-af174a03bd4d	g.chr6:155776002C>T	ENST00000159060.2	-	3	300	c.198G>A	c.(196-198)atG>atA	p.M66I		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	66	Ferric oxidoreductase.				detection of gravity (GO:0009590)|otolith development (GO:0048840)|superoxide anion generation (GO:0042554)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|NADPH oxidase complex (GO:0043020)	superoxide-generating NADPH oxidase activity (GO:0016175)			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		TTAGAATTAGCATGCAGTTAA	0.373																																					p.M66I		Atlas-SNP	.											.	NOX3	93	.	0			c.G198A						.						68.0	68.0	68.0					6																	155776002		2203	4300	6503	SO:0001583	missense	50508	exon3			AATTAGCATGCAG	AF190122	CCDS5250.1	6q25.3	2008-05-15			ENSG00000074771	ENSG00000074771			7890	protein-coding gene	gene with protein product		607105				11376945	Standard	NM_015718		Approved	GP91-3	uc003qqm.3	Q9HBY0	OTTHUMG00000015883	ENST00000159060.2:c.198G>A	chr6.hg19:g.155776002C>T	ENSP00000159060:p.Met66Ile	120.0	0.0		124.0	80.0	NM_015718	Q9HBJ9	Missense_Mutation	SNP	ENST00000159060.2	hg19	CCDS5250.1	.	.	.	.	.	.	.	.	.	.	C	16.08	3.022955	0.54683	.	.	ENSG00000074771	ENST00000159060	D	0.90504	-2.68	5.91	5.04	0.67666	Flavoprotein transmembrane component (1);	0.000000	0.85682	D	0.000000	D	0.84911	0.5577	L	0.54965	1.715	0.40084	D	0.976174	P	0.34462	0.454	B	0.34931	0.192	D	0.86393	0.1737	10	0.56958	D	0.05	-35.2106	14.5068	0.67758	0.0:0.9302:0.0:0.0698	.	66	Q9HBY0	NOX3_HUMAN	I	66	ENSP00000159060:M66I	ENSP00000159060:M66I	M	-	3	0	NOX3	155817694	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.674000	0.61612	2.804000	0.96469	0.650000	0.86243	ATG	.	.		0.373	NOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042819.1		
USP42	84132	hgsc.bcm.edu	37	7	6150812	6150812	+	Silent	SNP	T	T	C			TCGA-2Y-A9H8-01A-11D-A38X-10	TCGA-2Y-A9H8-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a8ce4db3-59d7-41a4-bd0d-d6dc39a003e4	ea9d6487-fc5c-429d-9870-af174a03bd4d	g.chr7:6150812T>C	ENST00000306177.5	+	2	206	c.48T>C	c.(46-48)taT>taC	p.Y16Y		NM_032172.2	NP_115548.1	Q9H9J4	UBP42_HUMAN	ubiquitin specific peptidase 42	16					cell differentiation (GO:0030154)|protein deubiquitination (GO:0016579)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(2)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	35		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)		CATCAGCCTATCAGAATCAGC	0.453																																					p.Y16Y		Atlas-SNP	.											.	USP42	138	.	0			c.T48C						.						73.0	69.0	70.0					7																	6150812		1957	4146	6103	SO:0001819	synonymous_variant	84132	exon2			AGCCTATCAGAAT	AK022759	CCDS47535.1	7p22.2	2005-08-08	2005-08-08		ENSG00000106346	ENSG00000106346		"""Ubiquitin-specific peptidases"""	20068	protein-coding gene	gene with protein product			"""ubiquitin specific protease 42"""			12838346	Standard	NM_032172		Approved	FLJ12697	uc011jwp.2	Q9H9J4	OTTHUMG00000151888	ENST00000306177.5:c.48T>C	chr7.hg19:g.6150812T>C		106.0	0.0		173.0	66.0	NM_032172	A2RUE3|B5MDA5|Q0VIN8|Q3C166|Q6P9B4	Silent	SNP	ENST00000306177.5	hg19	CCDS47535.1																																																																																			.	.		0.453	USP42-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324262.3	XM_166526	
HOXA2	3199	hgsc.bcm.edu	37	7	27141906	27141906	+	Missense_Mutation	SNP	G	G	A			TCGA-2Y-A9H8-01A-11D-A38X-10	TCGA-2Y-A9H8-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a8ce4db3-59d7-41a4-bd0d-d6dc39a003e4	ea9d6487-fc5c-429d-9870-af174a03bd4d	g.chr7:27141906G>A	ENST00000222718.5	-	1	524	c.214C>T	c.(214-216)Cgc>Tgc	p.R72C	HOTAIRM1_ENST00000429611.3_RNA|HOTAIRM1_ENST00000593300.1_RNA|HOTAIRM1_ENST00000428939.3_RNA|HOTAIRM1_ENST00000425358.2_RNA|HOTAIRM1_ENST00000434063.3_RNA	NM_006735.3	NP_006726.1	O43364	HXA2_HUMAN	homeobox A2	72					anterior/posterior pattern specification (GO:0009952)|brain segmentation (GO:0035284)|cell fate determination (GO:0001709)|dorsal/ventral pattern formation (GO:0009953)|embryonic viscerocranium morphogenesis (GO:0048703)|middle ear morphogenesis (GO:0042474)|motor neuron axon guidance (GO:0008045)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoblast development (GO:0002076)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|rhombomere 2 development (GO:0021568)|rhombomere 3 morphogenesis (GO:0021658)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|cervix(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	22						GGCTTGGGGCGGCCGCCAGCG	0.701																																					p.R72C		Atlas-SNP	.											.	HOXA2	56	.	0			c.C214T						.						15.0	19.0	18.0					7																	27141906		2123	4271	6394	SO:0001583	missense	3199	exon1			TGGGGCGGCCGCC		CCDS5403.1	7p15.2	2011-06-20	2005-12-22		ENSG00000105996	ENSG00000105996		"""Homeoboxes / ANTP class : HOXL subclass"""	5103	protein-coding gene	gene with protein product		604685	"""homeo box A2"""	HOX1K		1358459	Standard	NM_006735		Approved		uc003syh.3	O43364	OTTHUMG00000023208	ENST00000222718.5:c.214C>T	chr7.hg19:g.27141906G>A	ENSP00000222718:p.Arg72Cys	828.0	0.0		764.0	41.0	NM_006735	A1L4K3|B2RMW3	Missense_Mutation	SNP	ENST00000222718.5	hg19	CCDS5403.1	.	.	.	.	.	.	.	.	.	.	G	13.58	2.280938	0.40394	.	.	ENSG00000105996	ENST00000222718	D	0.93189	-3.18	5.49	4.6	0.57074	.	0.109676	0.64402	D	0.000006	D	0.93481	0.7920	M	0.86343	2.81	0.80722	D	1	B	0.20261	0.043	B	0.18263	0.021	D	0.92244	0.5803	10	0.72032	D	0.01	.	13.3753	0.60734	0.0765:0.0:0.9235:0.0	.	72	O43364	HXA2_HUMAN	C	72	ENSP00000222718:R72C	ENSP00000222718:R72C	R	-	1	0	HOXA2	27108431	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.894000	0.63206	2.584000	0.87258	0.591000	0.81541	CGC	.	.		0.701	HOXA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358508.2		
GLI3	2737	hgsc.bcm.edu	37	7	42065983	42065983	+	Missense_Mutation	SNP	C	C	T	rs375277249		TCGA-2Y-A9H8-01A-11D-A38X-10	TCGA-2Y-A9H8-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a8ce4db3-59d7-41a4-bd0d-d6dc39a003e4	ea9d6487-fc5c-429d-9870-af174a03bd4d	g.chr7:42065983C>T	ENST00000395925.3	-	8	1141	c.1057G>A	c.(1057-1059)Gcg>Acg	p.A353T	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	353					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						GAGACGGGCGCGGAAGAGTAG	0.537									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																												p.A353T		Atlas-SNP	.											.	GLI3	312	.	0			c.G1057A						.						92.0	88.0	90.0					7																	42065983		2203	4300	6503	SO:0001583	missense	2737	exon8	Familial Cancer Database	;	CGGGCGCGGAAGA		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"""Zinc fingers, C2H2-type"""	4319	protein-coding gene	gene with protein product	"""zinc finger protein GLI3"", ""oncogene GLI3"", ""DNA-binding protein"""	165240	"""Greig cephalopolysyndactyly syndrome"", ""GLI-Kruppel family member GLI3"", ""glioma-associated oncogene family zinc finger 3"""	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.1057G>A	chr7.hg19:g.42065983C>T	ENSP00000379258:p.Ala353Thr	94.0	0.0		136.0	36.0	NM_000168	A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Missense_Mutation	SNP	ENST00000395925.3	hg19	CCDS5465.1	.	.	.	.	.	.	.	.	.	.	C	0.081	-1.184119	0.01620	.	.	ENSG00000106571	ENST00000395925	T	0.12774	2.65	5.9	4.92	0.64577	.	0.044427	0.85682	D	0.000000	T	0.03263	0.0095	N	0.01576	-0.805	0.80722	D	1	B	0.09022	0.002	B	0.06405	0.002	T	0.42832	-0.9428	10	0.02654	T	1	.	3.8897	0.09113	0.0:0.682:0.0:0.3179	.	353	P10071	GLI3_HUMAN	T	353	ENSP00000379258:A353T	ENSP00000379258:A353T	A	-	1	0	GLI3	42032508	1.000000	0.71417	0.472000	0.27241	0.132000	0.20833	5.675000	0.68123	2.788000	0.95919	0.650000	0.86243	GCG	.	.		0.537	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3	NM_000168	
AEBP1	165	hgsc.bcm.edu	37	7	44153377	44153377	+	Silent	SNP	G	G	A			TCGA-2Y-A9H8-01A-11D-A38X-10	TCGA-2Y-A9H8-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a8ce4db3-59d7-41a4-bd0d-d6dc39a003e4	ea9d6487-fc5c-429d-9870-af174a03bd4d	g.chr7:44153377G>A	ENST00000223357.3	+	21	3299	c.2994G>A	c.(2992-2994)ggG>ggA	p.G998G	MIR4649_ENST00000582839.1_RNA|AEBP1_ENST00000450684.2_Silent_p.G573G	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	998	Required for transcriptional repression. {ECO:0000250}.				cell adhesion (GO:0007155)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						CCATGAACGGGAACCGGCCTA	0.612																																					p.G998G		Atlas-SNP	.											.	AEBP1	102	.	0			c.G2994A						.						131.0	127.0	128.0					7																	44153377		2203	4300	6503	SO:0001819	synonymous_variant	165	exon21			GAACGGGAACCGG	D86479	CCDS5476.1	7p	2008-07-18	2001-11-28		ENSG00000106624	ENSG00000106624			303	protein-coding gene	gene with protein product	"""aortic carboxypeptidase-like protein"", ""adipocyte enhancer binding protein 1"""	602981	"""AE-binding protein 1"""			8920928	Standard	NM_001129		Approved	ACLP	uc003tkb.4	Q8IUX7	OTTHUMG00000023362	ENST00000223357.3:c.2994G>A	chr7.hg19:g.44153377G>A		114.0	0.0		150.0	60.0	NM_001129	Q14113|Q59ER7|Q6ZSC7|Q7KZ79	Silent	SNP	ENST00000223357.3	hg19	CCDS5476.1																																																																																			.	.		0.612	AEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250993.2	NM_001129	
POM121L12	285877	hgsc.bcm.edu	37	7	53103524	53103524	+	Missense_Mutation	SNP	C	C	T			TCGA-2Y-A9H8-01A-11D-A38X-10	TCGA-2Y-A9H8-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a8ce4db3-59d7-41a4-bd0d-d6dc39a003e4	ea9d6487-fc5c-429d-9870-af174a03bd4d	g.chr7:53103524C>T	ENST00000408890.4	+	1	176	c.160C>T	c.(160-162)Ccc>Tcc	p.P54S		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	54										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						GAGTCCCTGGCCCCTGAGGTC	0.701																																					p.P54S		Atlas-SNP	.											.	POM121L12	146	.	0			c.C160T						.						28.0	34.0	32.0					7																	53103524		1992	4162	6154	SO:0001583	missense	285877	exon1			CCCTGGCCCCTGA		CCDS43584.1	7p12.1	2012-03-13	2012-03-13		ENSG00000221900	ENSG00000221900			25369	protein-coding gene	gene with protein product			"""POM121 membrane glycoprotein-like 12"""				Standard	NM_182595		Approved	DKFZp564N2472	uc003tpz.3	Q8N7R1	OTTHUMG00000155995	ENST00000408890.4:c.160C>T	chr7.hg19:g.53103524C>T	ENSP00000386133:p.Pro54Ser	229.0	0.0		299.0	50.0	NM_182595	Q8NDI9	Missense_Mutation	SNP	ENST00000408890.4	hg19	CCDS43584.1	.	.	.	.	.	.	.	.	.	.	C	1.909	-0.451167	0.04572	.	.	ENSG00000221900	ENST00000408890	T	0.36520	1.25	1.49	0.545	0.17190	.	.	.	.	.	T	0.25531	0.0621	L	0.42245	1.32	0.09310	N	1	B	0.26318	0.146	B	0.18561	0.022	T	0.17379	-1.0371	9	0.30078	T	0.28	.	6.7225	0.23338	0.0:0.8119:0.0:0.1881	.	54	Q8N7R1	P1L12_HUMAN	S	54	ENSP00000386133:P54S	ENSP00000386133:P54S	P	+	1	0	POM121L12	53071018	0.000000	0.05858	0.004000	0.12327	0.001000	0.01503	-1.482000	0.02320	-0.150000	0.11195	-1.786000	0.00637	CCC	.	.		0.701	POM121L12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342656.1	NM_182595	
ABCB1	5243	hgsc.bcm.edu	37	7	87160674	87160674	+	Missense_Mutation	SNP	A	A	G	rs565619660		TCGA-2Y-A9H8-01A-11D-A38X-10	TCGA-2Y-A9H8-10A-01D-A38X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a8ce4db3-59d7-41a4-bd0d-d6dc39a003e4	ea9d6487-fc5c-429d-9870-af174a03bd4d	g.chr7:87160674A>G	ENST00000265724.3	-	22	3038	c.2621T>C	c.(2620-2622)gTt>gCt	p.V874A	ABCB1_ENST00000543898.1_Missense_Mutation_p.V810A|ABCB1_ENST00000488737.2_5'UTR	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	874	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	TTTCATTTCAACAACTCCTGC	0.358													A|||	1	0.000199681	0.0008	0.0	5008	,	,		17993	0.0		0.0	False		,,,				2504	0.0				p.V874A		Atlas-SNP	.											.	ABCB1	263	.	0			c.T2621C						.						146.0	144.0	145.0					7																	87160674		2203	4300	6503	SO:0001583	missense	5243	exon22			ATTTCAACAACTC	M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"""CD molecules"", ""ATP binding cassette transporters / subfamily B"""	40	protein-coding gene	gene with protein product	"""multidrug resistance protein 1"""	171050	"""colchicin sensitivity"""	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.2621T>C	chr7.hg19:g.87160674A>G	ENSP00000265724:p.Val874Ala	85.0	0.0		182.0	79.0	NM_000927	A8K294|B5AK60|Q12755|Q14812	Missense_Mutation	SNP	ENST00000265724.3	hg19	CCDS5608.1	.	.	.	.	.	.	.	.	.	.	A	15.80	2.941101	0.53079	.	.	ENSG00000085563	ENST00000543174;ENST00000265724;ENST00000543898	D;D	0.90197	-2.63;-2.63	5.67	5.67	0.87782	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.569557	0.19168	N	0.121019	D	0.90263	0.6955	L	0.39633	1.23	0.34052	D	0.656306	B;B	0.31026	0.003;0.304	B;B	0.43082	0.032;0.407	D	0.91908	0.5537	10	0.36615	T	0.2	-5.9364	16.1924	0.82000	1.0:0.0:0.0:0.0	.	810;874	B5AK60;P08183	.;MDR1_HUMAN	A	655;874;810	ENSP00000265724:V874A;ENSP00000444095:V810A	ENSP00000265724:V874A	V	-	2	0	ABCB1	86998610	1.000000	0.71417	0.954000	0.39281	0.996000	0.88848	6.517000	0.73759	2.287000	0.76781	0.482000	0.46254	GTT	.	.		0.358	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	NM_000927	
FLNC	2318	hgsc.bcm.edu	37	7	128492798	128492798	+	Missense_Mutation	SNP	G	G	A			TCGA-2Y-A9H8-01A-11D-A38X-10	TCGA-2Y-A9H8-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a8ce4db3-59d7-41a4-bd0d-d6dc39a003e4	ea9d6487-fc5c-429d-9870-af174a03bd4d	g.chr7:128492798G>A	ENST00000325888.8	+	36	6257	c.5996G>A	c.(5995-5997)cGg>cAg	p.R1999Q	FLNC_ENST00000346177.6_Missense_Mutation_p.R1966Q|RP11-309L24.2_ENST00000469965.1_RNA	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1999					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CTGCCCAACCGGCACATTGGT	0.652																																					p.R1999Q		Atlas-SNP	.											FLNC,NS,carcinoma,0,2	FLNC	339	.	0			c.G5996A						.						42.0	47.0	45.0					7																	128492798		2013	4184	6197	SO:0001583	missense	2318	exon36			CCAACCGGCACAT	AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"""actin binding protein 280"""	102565	"""filamin C, gamma (actin binding protein 280)"""	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.5996G>A	chr7.hg19:g.128492798G>A	ENSP00000327145:p.Arg1999Gln	162.0	0.0		157.0	118.0	NM_001458	B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP	ENST00000325888.8	hg19	CCDS43644.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.173938	0.78452	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	T;T	0.41758	0.99;0.99	5.97	5.97	0.96955	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.129340	0.50627	D	0.000112	T	0.51500	0.1678	L	0.44542	1.39	0.38909	D	0.957482	D;P	0.71674	0.998;0.818	P;B	0.58172	0.834;0.193	T	0.53143	-0.8480	10	0.62326	D	0.03	.	14.023	0.64568	0.0774:0.0:0.9226:0.0	.	1966;1999	Q14315-2;Q14315	.;FLNC_HUMAN	Q	1999;1966	ENSP00000327145:R1999Q;ENSP00000344002:R1966Q	ENSP00000327145:R1999Q	R	+	2	0	FLNC	128280034	0.998000	0.40836	1.000000	0.80357	0.950000	0.60333	3.390000	0.52523	2.837000	0.97791	0.655000	0.94253	CGG	.	.		0.652	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3		
ARHGEF10	9639	hgsc.bcm.edu	37	8	1830810	1830810	+	Missense_Mutation	SNP	C	C	T			TCGA-2Y-A9H8-01A-11D-A38X-10	TCGA-2Y-A9H8-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a8ce4db3-59d7-41a4-bd0d-d6dc39a003e4	ea9d6487-fc5c-429d-9870-af174a03bd4d	g.chr8:1830810C>T	ENST00000398564.1	+	10	1045	c.1045C>T	c.(1045-1047)Ctc>Ttc	p.L349F	ARHGEF10_ENST00000262112.6_Missense_Mutation_p.L349F|ARHGEF10_ENST00000398560.1_Missense_Mutation_p.L310F|ARHGEF10_ENST00000520359.1_Missense_Mutation_p.L286F|ARHGEF10_ENST00000518288.1_Missense_Mutation_p.L349F|ARHGEF10_ENST00000349830.3_Missense_Mutation_p.L324F			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	349					centrosome duplication (GO:0051298)|myelination in peripheral nervous system (GO:0022011)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cytosol (GO:0005829)	kinesin binding (GO:0019894)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		GATGCAGAAGCTCGTGAAGGC	0.582																																					p.L324F		Atlas-SNP	.											.	ARHGEF10	255	.	0			c.C970T						.						28.0	28.0	28.0					8																	1830810		2151	4212	6363	SO:0001583	missense	9639	exon10			CAGAAGCTCGTGA	AF009205	CCDS34794.1	8p23	2014-09-17			ENSG00000104728	ENSG00000104728		"""Rho guanine nucleotide exchange factors"""	14103	protein-coding gene	gene with protein product		608136				9205841, 16896804	Standard	XM_005266039		Approved	KIAA0294, Gef10	uc003wpr.3	O15013	OTTHUMG00000163626	ENST00000398564.1:c.1045C>T	chr8.hg19:g.1830810C>T	ENSP00000381571:p.Leu349Phe	262.0	1.0		247.0	128.0	NM_014629	O14665|Q2KHR8|Q68D55|Q8IWD9|Q8IY77	Missense_Mutation	SNP	ENST00000398564.1	hg19		.	.	.	.	.	.	.	.	.	.	C	12.32	1.901717	0.33535	.	.	ENSG00000104728	ENST00000349830;ENST00000520359;ENST00000518288;ENST00000398560;ENST00000398564;ENST00000262112	T;T;T;T;T;T	0.64991	0.03;0.22;0.02;-0.13;0.02;0.02	5.31	4.43	0.53597	.	0.000000	0.64402	D	0.000001	T	0.60379	0.2264	L	0.55103	1.725	0.46798	D	0.999204	B;B;B;P	0.45212	0.089;0.185;0.144;0.853	B;B;B;B	0.43508	0.039;0.109;0.085;0.422	T	0.62267	-0.6890	10	0.46703	T	0.11	-32.6965	13.58	0.61896	0.0:0.9249:0.0:0.0751	.	349;310;286;324	O15013;E9PB39;O15013-7;O15013-5	ARHGA_HUMAN;.;.;.	F	324;286;349;310;349;349	ENSP00000340297:L324F;ENSP00000427909:L286F;ENSP00000431012:L349F;ENSP00000381568:L310F;ENSP00000381571:L349F;ENSP00000262112:L349F	ENSP00000262112:L349F	L	+	1	0	ARHGEF10	1818217	1.000000	0.71417	0.362000	0.25862	0.334000	0.28698	2.169000	0.42434	1.226000	0.43582	0.561000	0.74099	CTC	.	.		0.582	ARHGEF10-203	KNOWN	basic	protein_coding	protein_coding			
CPEB3	22849	hgsc.bcm.edu	37	10	93811980	93811980	+	Missense_Mutation	SNP	G	G	A			TCGA-2Y-A9H8-01A-11D-A38X-10	TCGA-2Y-A9H8-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a8ce4db3-59d7-41a4-bd0d-d6dc39a003e4	ea9d6487-fc5c-429d-9870-af174a03bd4d	g.chr10:93811980G>A	ENST00000265997.4	-	10	2258	c.2086C>T	c.(2086-2088)Cgc>Tgc	p.R696C	CPEB3_ENST00000412050.4_Missense_Mutation_p.R682C	NM_014912.4	NP_055727.3	Q8NE35	CPEB3_HUMAN	cytoplasmic polyadenylation element binding protein 3	696					3'-UTR-mediated mRNA destabilization (GO:0061158)|cellular response to amino acid stimulus (GO:0071230)|long-term memory (GO:0007616)|negative regulation of cytoplasmic translational elongation (GO:1900248)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translation (GO:0017148)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of mRNA polyadenylation (GO:1900365)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of translation (GO:0045727)|regulation of dendritic spine development (GO:0060998)|regulation of synaptic plasticity (GO:0048167)|translation (GO:0006412)	apical dendrite (GO:0097440)|CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuron projection (GO:0043005)|nucleus (GO:0005634)|synapse (GO:0045202)	mRNA 3'-UTR AU-rich region binding (GO:0035925)|mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA stem-loop binding (GO:0035613)|translation factor activity, nucleic acid binding (GO:0008135)|translation repressor activity, nucleic acid binding (GO:0000900)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0869)				CAGCTCCAGCGGAACGGGACG	0.607																																					p.R696C		Atlas-SNP	.											.	CPEB3	43	.	0			c.C2086T						.						28.0	28.0	28.0					10																	93811980		2203	4300	6503	SO:0001583	missense	22849	exon10			TCCAGCGGAACGG	AB023157	CCDS31246.1, CCDS53553.1	10q23.33	2013-02-12			ENSG00000107864	ENSG00000107864		"""RNA binding motif (RRM) containing"""	21746	protein-coding gene	gene with protein product		610606				10231032, 12672660	Standard	NM_014912		Approved	KIAA0940	uc001khw.2	Q8NE35	OTTHUMG00000018756	ENST00000265997.4:c.2086C>T	chr10.hg19:g.93811980G>A	ENSP00000265997:p.Arg696Cys	112.0	0.0		96.0	55.0	NM_014912	Q5T389|Q9NQJ7|Q9Y2E9	Missense_Mutation	SNP	ENST00000265997.4	hg19	CCDS31246.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.068177	0.76301	.	.	ENSG00000107864	ENST00000394210;ENST00000412050;ENST00000265997	T;T	0.60040	0.28;0.22	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.71558	0.3354	L	0.54323	1.7	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	P;P;P	0.61275	0.886;0.719;0.855	T	0.73272	-0.4035	10	0.87932	D	0	-10.1112	19.7072	0.96079	0.0:0.0:1.0:0.0	.	696;682;682	Q8NE35;Q5QP71;Q8NE35-2	CPEB3_HUMAN;.;.	C	682;682;696	ENSP00000398310:R682C;ENSP00000265997:R696C	ENSP00000265997:R696C	R	-	1	0	CPEB3	93801960	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.662000	0.90505	0.591000	0.81541	CGC	.	.		0.607	CPEB3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049387.2	NM_014912	
SMC3	9126	hgsc.bcm.edu	37	10	112349410	112349410	+	Silent	SNP	G	G	A			TCGA-2Y-A9H8-01A-11D-A38X-10	TCGA-2Y-A9H8-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a8ce4db3-59d7-41a4-bd0d-d6dc39a003e4	ea9d6487-fc5c-429d-9870-af174a03bd4d	g.chr10:112349410G>A	ENST00000361804.4	+	14	1479	c.1353G>A	c.(1351-1353)ctG>ctA	p.L451L		NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	451					DNA repair (GO:0006281)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid cohesion (GO:0007064)|mitotic spindle organization (GO:0007052)|negative regulation of DNA endoreduplication (GO:0032876)|regulation of DNA replication (GO:0006275)|signal transduction (GO:0007165)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	basement membrane (GO:0005604)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cohesin core heterodimer (GO:0008280)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear matrix (GO:0016363)|nuclear meiotic cohesin complex (GO:0034991)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|dynein binding (GO:0045502)|microtubule motor activity (GO:0003777)|protein heterodimerization activity (GO:0046982)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		TAGAAGAACTGGACAGAAAAT	0.279																																					p.L451L		Atlas-SNP	.											.	SMC3	103	.	0			c.G1353A						.						30.0	31.0	31.0					10																	112349410		2202	4298	6500	SO:0001819	synonymous_variant	9126	exon14			AGAACTGGACAGA	AF020043	CCDS31285.1	10q25	2014-09-17	2006-07-06	2006-07-06	ENSG00000108055	ENSG00000108055		"""Structural maintenance of chromosomes proteins"", ""Proteoglycans / Extracellular Matrix : Other"""	2468	protein-coding gene	gene with protein product	"""bamacan proteoglycan"""	606062	"""chondroitin sulfate proteoglycan 6 (bamacan)"""	CSPG6		9506951, 10358101	Standard	NM_005445		Approved	HCAP, BAM, SMC3L1, bamacan	uc001kze.3	Q9UQE7	OTTHUMG00000019042	ENST00000361804.4:c.1353G>A	chr10.hg19:g.112349410G>A		718.0	0.0		720.0	176.0	NM_005445	A8K156|O60464|Q5T482	Silent	SNP	ENST00000361804.4	hg19	CCDS31285.1																																																																																			.	.		0.279	SMC3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050337.1	NM_005445	
TACC2	10579	hgsc.bcm.edu	37	10	123845998	123845998	+	Missense_Mutation	SNP	G	G	T			TCGA-2Y-A9H8-01A-11D-A38X-10	TCGA-2Y-A9H8-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a8ce4db3-59d7-41a4-bd0d-d6dc39a003e4	ea9d6487-fc5c-429d-9870-af174a03bd4d	g.chr10:123845998G>T	ENST00000369005.1	+	4	4323	c.3983G>T	c.(3982-3984)tGc>tTc	p.C1328F	TACC2_ENST00000515603.1_Missense_Mutation_p.C1328F|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515273.1_Missense_Mutation_p.C1328F|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000334433.3_Missense_Mutation_p.C1328F|TACC2_ENST00000453444.2_Missense_Mutation_p.C1328F	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	1328					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				TCCATGCCATGCCTGGACCGG	0.612																																					p.C1328F		Atlas-SNP	.											.	TACC2	271	.	0			c.G3983T						.						68.0	56.0	60.0					10																	123845998		2203	4300	6503	SO:0001583	missense	10579	exon4			TGCCATGCCTGGA	AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.3983G>T	chr10.hg19:g.123845998G>T	ENSP00000358001:p.Cys1328Phe	80.0	0.0		74.0	14.0	NM_206862	Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Missense_Mutation	SNP	ENST00000369005.1	hg19	CCDS7626.1	.	.	.	.	.	.	.	.	.	.	G	0.005	-2.165033	0.00318	.	.	ENSG00000138162	ENST00000369005;ENST00000515273;ENST00000515603;ENST00000334433;ENST00000453444;ENST00000340076	T;T;T;T;T	0.03242	4.03;4.1;4.0;4.03;4.1	4.11	1.84	0.25277	.	0.271361	0.19922	N	0.103077	T	0.01835	0.0058	N	0.14661	0.345	0.25968	N	0.982536	B;B;B	0.18461	0.028;0.028;0.028	B;B;B	0.11329	0.006;0.006;0.006	T	0.47674	-0.9099	10	0.06891	T	0.86	-2.826	5.909	0.19016	0.7668:0.0:0.2332:0.0	.	1328;1328;1328	E9PBC6;E7EMZ9;O95359	.;.;TACC2_HUMAN	F	1328;1328;1328;1328;1328;1318	ENSP00000358001:C1328F;ENSP00000424467:C1328F;ENSP00000427618:C1328F;ENSP00000334280:C1328F;ENSP00000395048:C1328F	ENSP00000334280:C1328F	C	+	2	0	TACC2	123835988	0.439000	0.25610	1.000000	0.80357	0.123000	0.20343	0.184000	0.16939	0.705000	0.31890	-0.390000	0.06520	TGC	.	.		0.612	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1		
SWAP70	23075	hgsc.bcm.edu	37	11	9754136	9754136	+	Missense_Mutation	SNP	G	G	A			TCGA-2Y-A9H8-01A-11D-A38X-10	TCGA-2Y-A9H8-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a8ce4db3-59d7-41a4-bd0d-d6dc39a003e4	ea9d6487-fc5c-429d-9870-af174a03bd4d	g.chr11:9754136G>A	ENST00000318950.6	+	7	1062	c.959G>A	c.(958-960)cGc>cAc	p.R320H	SWAP70_ENST00000447399.2_Missense_Mutation_p.R262H	NM_015055.2	NP_055870.2	Q9UH65	SWP70_HUMAN	SWAP switching B-cell complex 70kDa subunit	320					isotype switching (GO:0045190)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|DNA binding (GO:0003677)			NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	11				all cancers(16;1.21e-10)|Epithelial(150;2.81e-09)|BRCA - Breast invasive adenocarcinoma(625;0.00649)		AAAGAAGCCCGCCAGCGTCGG	0.502																																					p.R320H		Atlas-SNP	.											SWAP70,NS,carcinoma,0,1	SWAP70	40	.	0			c.G959A						.						27.0	28.0	28.0					11																	9754136		2199	4292	6491	SO:0001583	missense	23075	exon7			AAGCCCGCCAGCG	AB014540	CCDS31426.1, CCDS73257.1	11p15	2013-01-10			ENSG00000133789	ENSG00000133789		"""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"""	17070	protein-coding gene	gene with protein product		604762				9734811, 10681448	Standard	XM_005252829		Approved	KIAA0640, SWAP-70	uc001mhw.3	Q9UH65	OTTHUMG00000165865	ENST00000318950.6:c.959G>A	chr11.hg19:g.9754136G>A	ENSP00000315630:p.Arg320His	262.0	0.0		311.0	148.0	NM_015055	D3DQV1|O75135|Q7LCY6|Q9P061|Q9P0Z8	Missense_Mutation	SNP	ENST00000318950.6	hg19	CCDS31426.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.039675	0.93630	.	.	ENSG00000133789	ENST00000447399;ENST00000318950;ENST00000534662	T;T;T	0.31510	1.88;1.49;3.1	5.26	5.26	0.73747	.	0.051447	0.85682	D	0.000000	T	0.53417	0.1795	L	0.54323	1.7	0.53688	D	0.999974	D;D;D	0.89917	1.0;1.0;1.0	P;P;D	0.83275	0.902;0.886;0.996	T	0.54523	-0.8281	10	0.66056	D	0.02	-7.7113	18.8921	0.92408	0.0:0.0:1.0:0.0	.	262;320;262	E7EMB1;Q9UH65;B3KUB9	.;SWP70_HUMAN;.	H	262;320;171	ENSP00000399056:R262H;ENSP00000315630:R320H;ENSP00000435587:R171H	ENSP00000315630:R320H	R	+	2	0	SWAP70	9710712	1.000000	0.71417	0.998000	0.56505	0.896000	0.52359	9.455000	0.97625	2.439000	0.82584	0.563000	0.77884	CGC	.	.		0.502	SWAP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386766.2	NM_015055	
LPAR5	57121	hgsc.bcm.edu	37	12	6747504	6747504	+	5'Flank	SNP	C	C	T			TCGA-2Y-A9H8-01A-11D-A38X-10	TCGA-2Y-A9H8-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a8ce4db3-59d7-41a4-bd0d-d6dc39a003e4	ea9d6487-fc5c-429d-9870-af174a03bd4d	g.chr12:6747504C>T	ENST00000329858.4	-	0	0				ACRBP_ENST00000542357.1_5'Flank|ACRBP_ENST00000414226.2_Missense_Mutation_p.V493I|ACRBP_ENST00000229243.2_Missense_Mutation_p.V526I|LPAR5_ENST00000540335.1_5'Flank	NM_020400.5	NP_065133.1	Q9H1C0	LPAR5_HUMAN	lysophosphatidic acid receptor 5							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.V526I(1)		endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|skin(2)	7						CGAAGCACAACGTCCTCACTT	0.557																																					p.V526I	NSCLC(74;891 2312 37538)	Atlas-SNP	.											ACRBP,caecum,carcinoma,0,1	ACRBP	52	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1576A						.						135.0	109.0	118.0					12																	6747504		2203	4300	6503	SO:0001631	upstream_gene_variant	84519	exon10			GCACAACGTCCTC	AJ272207	CCDS8553.1	12p13.31	2012-08-08	2008-04-11	2008-04-11		ENSG00000184574		"""GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"""	13307	protein-coding gene	gene with protein product		606926	"""G protein-coupled receptor 92"""	GPR93, GPR92		11062477, 11574155, 16774927, 16651401	Standard	NM_020400		Approved	KPG_010, LPA5	uc009zer.2	Q9H1C0			chr12.hg19:g.6747504C>T	Exception_encountered	78.0	0.0		75.0	16.0	NM_032489		Missense_Mutation	SNP	ENST00000329858.4	hg19	CCDS8553.1	.	.	.	.	.	.	.	.	.	.	C	0.686	-0.796423	0.02862	.	.	ENSG00000111644	ENST00000229243;ENST00000414226	T;T	0.44083	0.93;0.93	4.7	-9.4	0.00616	.	2.277090	0.01801	N	0.032918	T	0.19005	0.0456	N	0.14661	0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.09707	-1.0662	10	0.18710	T	0.47	-10.7213	3.7466	0.08551	0.0807:0.1952:0.3506:0.3736	.	493;526	E7EP66;Q8NEB7	.;ACRBP_HUMAN	I	526;493	ENSP00000229243:V526I;ENSP00000402725:V493I	ENSP00000229243:V526I	V	-	1	0	ACRBP	6617765	0.000000	0.05858	0.000000	0.03702	0.040000	0.13550	-1.600000	0.02083	-2.147000	0.00799	-2.075000	0.00382	GTT	.	.		0.557	LPAR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400699.1	NM_020400	
SYT10	341359	hgsc.bcm.edu	37	12	33560128	33560128	+	Missense_Mutation	SNP	G	G	C			TCGA-2Y-A9H8-01A-11D-A38X-10	TCGA-2Y-A9H8-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a8ce4db3-59d7-41a4-bd0d-d6dc39a003e4	ea9d6487-fc5c-429d-9870-af174a03bd4d	g.chr12:33560128G>C	ENST00000228567.3	-	3	969	c.673C>G	c.(673-675)Caa>Gaa	p.Q225E	SYT10_ENST00000535526.1_Missense_Mutation_p.Q44E|RP11-438D14.2_ENST00000561632.1_lincRNA|SYT10_ENST00000567656.1_5'Flank	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	225					regulation of calcium ion-dependent exocytosis (GO:0017158)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					TCTTCGTTTTGGTTGCCCTCA	0.383																																					p.Q225E		Atlas-SNP	.											.	SYT10	109	.	0			c.C673G						.						131.0	117.0	122.0					12																	33560128		2203	4300	6503	SO:0001583	missense	341359	exon3			CGTTTTGGTTGCC	AY198413	CCDS8732.1	12p11	2013-01-21			ENSG00000110975	ENSG00000110975		"""Synaptotagmins"""	19266	protein-coding gene	gene with protein product							Standard	NM_198992		Approved		uc001rll.1	Q6XYQ8	OTTHUMG00000169269	ENST00000228567.3:c.673C>G	chr12.hg19:g.33560128G>C	ENSP00000228567:p.Gln225Glu	103.0	0.0		129.0	31.0	NM_198992	Q495U2	Missense_Mutation	SNP	ENST00000228567.3	hg19	CCDS8732.1	.	.	.	.	.	.	.	.	.	.	G	0.568	-0.842346	0.02671	.	.	ENSG00000110975	ENST00000228567;ENST00000535526	T;T	0.49139	0.89;0.79	4.94	1.14	0.20703	.	0.714878	0.11459	U	0.561978	T	0.23014	0.0556	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.27938	-1.0059	10	0.02654	T	1	.	6.6268	0.22835	0.0:0.0834:0.3088:0.6078	.	225	Q6XYQ8	SYT10_HUMAN	E	225;44	ENSP00000228567:Q225E;ENSP00000438691:Q44E	ENSP00000228567:Q225E	Q	-	1	0	SYT10	33451395	0.693000	0.27728	0.003000	0.11579	0.663000	0.39108	1.557000	0.36299	0.085000	0.17107	-0.457000	0.05445	CAA	.	.		0.383	SYT10-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403222.1	NM_198992	
POLE	5426	hgsc.bcm.edu	37	12	133254296	133254296	+	Silent	SNP	C	C	T			TCGA-2Y-A9H8-01A-11D-A38X-10	TCGA-2Y-A9H8-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a8ce4db3-59d7-41a4-bd0d-d6dc39a003e4	ea9d6487-fc5c-429d-9870-af174a03bd4d	g.chr12:133254296C>T	ENST00000320574.5	-	7	631	c.588G>A	c.(586-588)caG>caA	p.Q196Q	POLE_ENST00000535270.1_Silent_p.Q169Q	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	196					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	CACCGCCCCTCTGCAGAACAC	0.498								DNA polymerases (catalytic subunits)																													p.Q196Q		Atlas-SNP	.											.	POLE	416	.	0			c.G588A						.						83.0	79.0	80.0					12																	133254296		2203	4300	6503	SO:0001819	synonymous_variant	5426	exon7			GCCCCTCTGCAGA		CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"""DNA polymerases"""	9177	protein-coding gene	gene with protein product	"""DNA polymerase epsilon catalytic subunit A"""	174762	"""polymerase (DNA directed), epsilon"""			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.588G>A	chr12.hg19:g.133254296C>T		162.0	0.0		108.0	77.0	NM_006231	Q13533|Q86VH9	Silent	SNP	ENST00000320574.5	hg19	CCDS9278.1																																																																																			.	.		0.498	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	NM_006231	
OR4K17	390436	hgsc.bcm.edu	37	14	20586326	20586326	+	Missense_Mutation	SNP	T	T	A			TCGA-2Y-A9H8-01A-11D-A38X-10	TCGA-2Y-A9H8-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a8ce4db3-59d7-41a4-bd0d-d6dc39a003e4	ea9d6487-fc5c-429d-9870-af174a03bd4d	g.chr14:20586326T>A	ENST00000315543.4	+	1	761	c.761T>A	c.(760-762)aTa>aAa	p.I254K		NM_001004715.1	NP_001004715.1	Q8NGC6	OR4KH_HUMAN	olfactory receptor, family 4, subfamily K, member 17	226						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)		CTGATCCTCATAACCATTAAG	0.418																																					p.I254K		Atlas-SNP	.											.	OR4K17	58	.	0			c.T761A						.						148.0	143.0	145.0					14																	20586326		2203	4300	6503	SO:0001583	missense	390436	exon1			TCCTCATAACCAT		CCDS32030.1	14q11.2	2013-09-23			ENSG00000176230	ENSG00000176230		"""GPCR / Class A : Olfactory receptors"""	15355	protein-coding gene	gene with protein product							Standard	NM_001004715		Approved		uc001vwo.1	Q8NGC6	OTTHUMG00000170783	ENST00000315543.4:c.761T>A	chr14.hg19:g.20586326T>A	ENSP00000319197:p.Ile254Lys	64.0	0.0		159.0	7.0	NM_001004715	Q6IF12	Missense_Mutation	SNP	ENST00000315543.4	hg19	CCDS32030.1	.	.	.	.	.	.	.	.	.	.	.	7.168	0.587126	0.13812	.	.	ENSG00000176230	ENST00000315543	T	0.36878	1.23	2.86	-1.85	0.07784	GPCR, rhodopsin-like superfamily (1);	0.285191	0.18470	U	0.140259	T	0.26159	0.0638	L	0.46567	1.45	0.09310	N	1	B	0.28055	0.199	B	0.32342	0.144	T	0.22103	-1.0226	10	0.62326	D	0.03	.	4.2351	0.10621	0.0:0.2304:0.3373:0.4323	.	226	Q8NGC6	OR4KH_HUMAN	K	254	ENSP00000319197:I254K	ENSP00000319197:I254K	I	+	2	0	OR4K17	19656166	0.000000	0.05858	0.007000	0.13788	0.375000	0.29983	-2.093000	0.01353	-0.085000	0.12573	0.332000	0.21555	ATA	.	.		0.418	OR4K17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410346.1		
PATL2	197135	hgsc.bcm.edu	37	15	44964221	44964221	+	Missense_Mutation	SNP	A	A	G			TCGA-2Y-A9H8-01A-11D-A38X-10	TCGA-2Y-A9H8-10A-01D-A38X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a8ce4db3-59d7-41a4-bd0d-d6dc39a003e4	ea9d6487-fc5c-429d-9870-af174a03bd4d	g.chr15:44964221A>G	ENST00000560775.1	-	6	708	c.649T>C	c.(649-651)Tat>Cat	p.Y217H	PATL2_ENST00000560780.1_Missense_Mutation_p.Y28H|PATL2_ENST00000558573.1_5'Flank|PATL2_ENST00000434130.1_Missense_Mutation_p.Y217H			C9JE40	PATL2_HUMAN	protein associated with topoisomerase II homolog 2 (yeast)	217					negative regulation of cytoplasmic mRNA processing body assembly (GO:0010607)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|nucleus (GO:0005634)	RNA binding (GO:0003723)			kidney(2)|stomach(1)	3						ACCTGGTAATAGTAGTCATCC	0.557																																					p.Y217H		Atlas-SNP	.											.	PATL2	19	.	0			c.T649C						.						96.0	97.0	97.0					15																	44964221		687	1589	2276	SO:0001583	missense	197135	exon7			GGTAATAGTAGTC	BC036924	CCDS45253.1	15q21.1	2010-06-04			ENSG00000229474	ENSG00000229474			33630	protein-coding gene	gene with protein product		614661				17936923	Standard	NM_001145112		Approved		uc010uej.2	C9JE40		ENST00000560775.1:c.649T>C	chr15.hg19:g.44964221A>G	ENSP00000453915:p.Tyr217His	126.0	0.0		76.0	47.0	NM_001145112		Missense_Mutation	SNP	ENST00000560775.1	hg19	CCDS45253.1	.	.	.	.	.	.	.	.	.	.	A	25.8	4.673329	0.88445	.	.	ENSG00000229474	ENST00000434130	T	0.80393	-1.37	5.66	5.66	0.87406	.	.	.	.	.	D	0.90827	0.7119	M	0.89478	3.035	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	D	0.92413	0.5939	9	0.87932	D	0	-3.2086	13.8492	0.63485	1.0:0.0:0.0:0.0	.	217	C9JE40	PATL2_HUMAN	H	217	ENSP00000416673:Y217H	ENSP00000416673:Y217H	Y	-	1	0	PATL2	42751513	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	8.722000	0.91452	2.153000	0.67306	0.533000	0.62120	TAT	.	.		0.557	PATL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415947.1	NM_001145112	
FAM214A	56204	hgsc.bcm.edu	37	15	52879386	52879386	+	Missense_Mutation	SNP	T	T	C			TCGA-2Y-A9H8-01A-11D-A38X-10	TCGA-2Y-A9H8-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a8ce4db3-59d7-41a4-bd0d-d6dc39a003e4	ea9d6487-fc5c-429d-9870-af174a03bd4d	g.chr15:52879386T>C	ENST00000261844.7	-	11	2991	c.2839A>G	c.(2839-2841)Agg>Ggg	p.R947G	RP11-23N2.4_ENST00000566344.1_RNA|FAM214A_ENST00000546305.2_Missense_Mutation_p.R954G|RP11-23N2.4_ENST00000562062.1_RNA	NM_019600.2	NP_062546.2	Q32MH5	F214A_HUMAN	family with sequence similarity 214, member A	947																	CGATAACCCCTTTTACCAAGG	0.333																																					p.R947G		Atlas-SNP	.											.	.	.	.	0			c.A2839G						.						132.0	123.0	126.0					15																	52879386		1833	4080	5913	SO:0001583	missense	56204	exon11			AACCCCTTTTACC	AB037791	CCDS45263.1, CCDS66773.1	15q21.2-q21.3	2011-12-01	2011-12-01	2011-12-01	ENSG00000047346	ENSG00000047346			25609	protein-coding gene	gene with protein product			"""KIAA1370"""	KIAA1370		10718198	Standard	XM_005254547		Approved	FLJ10980	uc002acg.4	Q32MH5		ENST00000261844.7:c.2839A>G	chr15.hg19:g.52879386T>C	ENSP00000261844:p.Arg947Gly	143.0	0.0		132.0	6.0	NM_019600	A8KA52|B4DEP5|B4DF40|F5H8G0|Q32MH6|Q4G0R7|Q5XJ16|Q6PDA3|Q9NV24|Q9P2H7	Missense_Mutation	SNP	ENST00000261844.7	hg19	CCDS45263.1	.	.	.	.	.	.	.	.	.	.	T	22.8	4.339121	0.81911	.	.	ENSG00000047346	ENST00000261844;ENST00000399202;ENST00000534964;ENST00000546305	T;T	0.33654	1.4;1.4	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	T	0.51126	0.1656	L	0.39898	1.24	0.80722	D	1	D;D	0.65815	0.995;0.991	D;D	0.73380	0.98;0.955	T	0.53330	-0.8454	10	0.66056	D	0.02	.	15.0489	0.71850	0.0:0.0:0.0:1.0	.	954;947	F5H8G0;Q32MH5	.;K1370_HUMAN	G	947;947;946;954	ENSP00000261844:R947G;ENSP00000443598:R954G	ENSP00000261844:R947G	R	-	1	2	KIAA1370	50666678	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.846000	0.69444	1.949000	0.56562	0.528000	0.53228	AGG	.	.		0.333	FAM214A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419914.1	NM_019600	
PDE8A	5151	hgsc.bcm.edu	37	15	85652345	85652345	+	Silent	SNP	C	C	T			TCGA-2Y-A9H8-01A-11D-A38X-10	TCGA-2Y-A9H8-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a8ce4db3-59d7-41a4-bd0d-d6dc39a003e4	ea9d6487-fc5c-429d-9870-af174a03bd4d	g.chr15:85652345C>T	ENST00000310298.4	+	13	1350	c.1098C>T	c.(1096-1098)gcC>gcT	p.A366A	PDE8A_ENST00000557957.1_Silent_p.A294A|PDE8A_ENST00000339708.5_Silent_p.A320A|PDE8A_ENST00000557819.2_3'UTR|PDE8A_ENST00000394553.1_Silent_p.A366A			O60658	PDE8A_HUMAN	phosphodiesterase 8A	366					cAMP catabolic process (GO:0006198)|cyclic nucleotide metabolic process (GO:0009187)|phosphorelay signal transduction system (GO:0000160)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	25	Colorectal(223;0.227)		BRCA - Breast invasive adenocarcinoma(143;0.0608)		Caffeine(DB00201)|Ketotifen(DB00920)	AAGCTGTTGCCTCCCGTGCAA	0.433																																					p.A366A		Atlas-SNP	.											.	PDE8A	50	.	0			c.C1098T						.						99.0	93.0	95.0					15																	85652345		2203	4299	6502	SO:0001819	synonymous_variant	5151	exon12			TGTTGCCTCCCGT	AF056490	CCDS10336.1, CCDS10337.1, CCDS58397.1	15q25.3	2008-05-14			ENSG00000073417	ENSG00000073417	3.1.4.17	"""Phosphodiesterases"""	8793	protein-coding gene	gene with protein product		602972				9618252	Standard	NM_001243137		Approved	HsT19550	uc002blh.3	O60658	OTTHUMG00000148670	ENST00000310298.4:c.1098C>T	chr15.hg19:g.85652345C>T		333.0	0.0		342.0	240.0	NM_002605	B3KXE6|H0YMZ7|Q6P9H3|Q969I1|Q96PC9|Q96PD0|Q96PD1|Q96T71|Q9UMB7|Q9UMC3	Silent	SNP	ENST00000310298.4	hg19	CCDS10336.1																																																																																			.	.		0.433	PDE8A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000309018.1	NM_002605	
MCTP2	55784	hgsc.bcm.edu	37	15	94901809	94901809	+	Missense_Mutation	SNP	G	G	T	rs534609623		TCGA-2Y-A9H8-01A-11D-A38X-10	TCGA-2Y-A9H8-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a8ce4db3-59d7-41a4-bd0d-d6dc39a003e4	ea9d6487-fc5c-429d-9870-af174a03bd4d	g.chr15:94901809G>T	ENST00000357742.4	+	9	1269	c.1269G>T	c.(1267-1269)aaG>aaT	p.K423N	MCTP2_ENST00000331706.4_Missense_Mutation_p.K11N|MCTP2_ENST00000451018.3_Missense_Mutation_p.K423N|MCTP2_ENST00000557742.1_Missense_Mutation_p.K11N|MCTP2_ENST00000543482.1_3'UTR	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	423	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			TGTGGGGAAAGGACAACAAAA	0.507																																					p.K423N		Atlas-SNP	.											.	MCTP2	122	.	0			c.G1269T						.						126.0	109.0	115.0					15																	94901809		2197	4298	6495	SO:0001583	missense	55784	exon9			GGGAAAGGACAAC	AK002037	CCDS32338.1, CCDS53975.1, CCDS53976.1	15q26.2	2006-02-08				ENSG00000140563			25636	protein-coding gene	gene with protein product						15528213	Standard	NM_018349		Approved	FLJ11175, FLJ33303	uc002btj.3	Q6DN12		ENST00000357742.4:c.1269G>T	chr15.hg19:g.94901809G>T	ENSP00000350377:p.Lys423Asn	170.0	0.0		142.0	86.0	NM_001159643	A2RRC2|C6G483|C6G484|Q49AB0|Q8TAX2|Q9NUS2|Q9NUW7	Missense_Mutation	SNP	ENST00000357742.4	hg19	CCDS32338.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.334768	0.81801	.	.	ENSG00000140563	ENST00000451018;ENST00000331706;ENST00000357742	T;T;T	0.72282	-0.4;-0.64;-0.4	5.78	3.91	0.45181	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.044071	0.85682	D	0.000000	T	0.81602	0.4857	M	0.76170	2.325	0.52501	D	0.999953	D;D;D	0.89917	0.961;1.0;1.0	P;D;D	0.97110	0.882;0.999;1.0	T	0.81611	-0.0854	10	0.72032	D	0.01	.	9.7826	0.40658	0.2025:0.0:0.7975:0.0	.	423;11;423	Q6DN12-2;Q6DN12-4;Q6DN12	.;.;MCTP2_HUMAN	N	423;11;423	ENSP00000395109:K423N;ENSP00000329646:K11N;ENSP00000350377:K423N	ENSP00000329646:K11N	K	+	3	2	MCTP2	92702813	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.433000	0.44793	0.790000	0.33803	0.650000	0.86243	AAG	.	.		0.507	MCTP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415060.3	NM_018349	
WDR90	197335	hgsc.bcm.edu	37	16	706396	706396	+	Silent	SNP	G	G	A	rs577796944		TCGA-2Y-A9H8-01A-11D-A38X-10	TCGA-2Y-A9H8-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a8ce4db3-59d7-41a4-bd0d-d6dc39a003e4	ea9d6487-fc5c-429d-9870-af174a03bd4d	g.chr16:706396G>A	ENST00000293879.4	+	18	2061	c.2061G>A	c.(2059-2061)acG>acA	p.T687T	WDR90_ENST00000549091.1_Silent_p.T687T|LA16c-349E10.1_ENST00000573609.1_RNA			Q96KV7	WDR90_HUMAN	WD repeat domain 90	687										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				TCCTGGACACGCTGTCCCGGG	0.697																																					p.T687T		Atlas-SNP	.											.	WDR90	107	.	0			c.G2061A						.						13.0	17.0	16.0					16																	706396		2119	4223	6342	SO:0001819	synonymous_variant	197335	exon18			GGACACGCTGTCC	AB067511	CCDS42092.1	16p13.3	2013-01-09			ENSG00000161996	ENSG00000161996		"""WD repeat domain containing"""	26960	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 17"", ""chromosome 16 open reading frame 15"", ""chromosome 16 open reading frame 16"", ""chromosome 16 open reading frame 19"", ""chromosome 16 open reading frame 18"""	C16orf17, C16orf15, C16orf16, C16orf19, C16orf18		11572484, 11157797	Standard	XM_005255160		Approved	FLJ36483, KIAA1924	uc002cii.1	Q96KV7	OTTHUMG00000048040	ENST00000293879.4:c.2061G>A	chr16.hg19:g.706396G>A		90.0	0.0		76.0	26.0	NM_145294	Q0VA87|Q0VA88|Q6P048|Q6ZMS1|Q6ZTH1|Q8N202|Q8N221|Q8NBB8|Q96PW4|Q96S18	Silent	SNP	ENST00000293879.4	hg19	CCDS42092.1																																																																																			.	.		0.697	WDR90-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404335.1	NM_145294	
GGA2	23062	hgsc.bcm.edu	37	16	23486224	23486224	+	Splice_Site	SNP	C	C	G			TCGA-2Y-A9H8-01A-11D-A38X-10	TCGA-2Y-A9H8-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a8ce4db3-59d7-41a4-bd0d-d6dc39a003e4	ea9d6487-fc5c-429d-9870-af174a03bd4d	g.chr16:23486224C>G	ENST00000309859.4	-	14	1533		c.e14+1		GGA2_ENST00000569182.1_5'Flank|GGA2_ENST00000567468.1_Intron	NM_015044.4	NP_055859.1	Q9UJY4	GGA2_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 2						intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(48;0.0386)		ATTGTACTTACTGGGCTTAAC	0.478																																					.		Atlas-SNP	.											.	GGA2	49	.	0			c.1450+1G>C						.						57.0	64.0	62.0					16																	23486224		2197	4300	6497	SO:0001630	splice_region_variant	23062	exon15			TACTTACTGGGCT	AF190863	CCDS10611.1	16p12	2010-02-12	2010-02-12		ENSG00000103365	ENSG00000103365			16064	protein-coding gene	gene with protein product		606005				10747088, 10749927	Standard	NM_015044		Approved	VEAR, KIAA1080	uc002dlq.3	Q9UJY4	OTTHUMG00000096957	ENST00000309859.4:c.1450+1G>C	chr16.hg19:g.23486224C>G		410.0	1.0		307.0	199.0	NM_015044	D3DWF0|O14564|Q9NYN2|Q9UPS2	Splice_Site	SNP	ENST00000309859.4	hg19	CCDS10611.1	.	.	.	.	.	.	.	.	.	.	C	18.18	3.566366	0.65651	.	.	ENSG00000103365	ENST00000309859	.	.	.	5.02	5.02	0.67125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.2485	0.66004	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GGA2	23393725	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	5.050000	0.64251	2.509000	0.84616	0.549000	0.68633	.	.	.		0.478	GGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214019.1		Intron
SF3B3	23450	hgsc.bcm.edu	37	16	70601427	70601427	+	Missense_Mutation	SNP	A	A	T			TCGA-2Y-A9H8-01A-11D-A38X-10	TCGA-2Y-A9H8-10A-01D-A38X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a8ce4db3-59d7-41a4-bd0d-d6dc39a003e4	ea9d6487-fc5c-429d-9870-af174a03bd4d	g.chr16:70601427A>T	ENST00000302516.5	+	21	3151	c.2940A>T	c.(2938-2940)aaA>aaT	p.K980N		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	980					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|protein complex assembly (GO:0006461)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	nucleic acid binding (GO:0003676)			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				TACTCCGAAAATGTGAGAATA	0.507																																					p.K980N		Atlas-SNP	.											.	SF3B3	99	.	0			c.A2940T						.						148.0	138.0	142.0					16																	70601427		2198	4300	6498	SO:0001583	missense	23450	exon21			CCGAAAATGTGAG	AJ001443	CCDS10894.1	16q22	2008-08-01	2002-08-29		ENSG00000189091	ENSG00000189091			10770	protein-coding gene	gene with protein product		605592	"""splicing factor 3b, subunit 3, 130kD"""			10490618	Standard	NM_012426		Approved	SAP130, SF3b130, RSE1, KIAA0017	uc002ezf.3	Q15393	OTTHUMG00000137582	ENST00000302516.5:c.2940A>T	chr16.hg19:g.70601427A>T	ENSP00000305790:p.Lys980Asn	162.0	0.0		118.0	79.0	NM_012426	Q6NTI8|Q96GC0|Q9BPY2|Q9UFX7|Q9UJ29	Missense_Mutation	SNP	ENST00000302516.5	hg19	CCDS10894.1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.444983	0.83993	.	.	ENSG00000189091	ENST00000302516	T	0.50548	0.74	6.17	-5.99	0.02213	WD40/YVTN repeat-like-containing domain (1);Cleavage/polyadenylation specificity factor, A subunit, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.72534	0.3472	H	0.94222	3.51	0.58432	D	0.999993	D	0.89917	1.0	D	0.97110	1.0	T	0.81239	-0.1023	10	0.72032	D	0.01	.	17.3479	0.87314	0.5672:0.0:0.4328:0.0	.	980	Q15393	SF3B3_HUMAN	N	980	ENSP00000305790:K980N	ENSP00000305790:K980N	K	+	3	2	SF3B3	69158928	0.995000	0.38212	0.864000	0.33941	0.901000	0.52897	0.346000	0.19997	-0.911000	0.03843	-0.854000	0.03029	AAA	.	.		0.507	SF3B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268972.1	NM_012426	
TP53	7157	hgsc.bcm.edu	37	17	7577547	7577547	+	Missense_Mutation	SNP	C	C	T	rs121912656|rs397516437		TCGA-2Y-A9H8-01A-11D-A38X-10	TCGA-2Y-A9H8-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a8ce4db3-59d7-41a4-bd0d-d6dc39a003e4	ea9d6487-fc5c-429d-9870-af174a03bd4d	g.chr17:7577547C>T	ENST00000269305.4	-	7	923	c.734G>A	c.(733-735)gGc>gAc	p.G245D	TP53_ENST00000359597.4_Missense_Mutation_p.G245D|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.G245D|TP53_ENST00000455263.2_Missense_Mutation_p.G245D|TP53_ENST00000445888.2_Missense_Mutation_p.G245D|TP53_ENST00000413465.2_Missense_Mutation_p.G245D	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	245	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1978757}.|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2259385}.|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575). {ECO:0000269|PubMed:8829627}.|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2263646}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.G245D(104)|p.G245V(66)|p.G245A(8)|p.0?(8)|p.?(5)|p.G152V(4)|p.G244_M246>V(3)|p.G152D(3)|p.G245N(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.G245E(1)|p.C242_M246>L(1)|p.G245fs*2(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.C238_M246delCNSSCMGGM(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CCGGTTCATGCCGCCCATGCA	0.582		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											p.G245D	Pancreas(47;798 1329 9957 10801)	Atlas-SNP	.	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	TP53_ENST00000545858,NS,adenocarcinoma,-1,1	TP53	33396	.	219	Substitution - Missense(191)|Whole gene deletion(8)|Deletion - Frameshift(7)|Complex - deletion inframe(5)|Unknown(5)|Deletion - In frame(3)	large_intestine(37)|lung(32)|oesophagus(23)|breast(22)|ovary(18)|upper_aerodigestive_tract(16)|haematopoietic_and_lymphoid_tissue(15)|liver(9)|prostate(7)|stomach(6)|central_nervous_system(6)|skin(6)|biliary_tract(5)|urinary_tract(5)|bone(5)|pancreas(4)|cervix(1)|vulva(1)|endometrium(1)	c.G734A	GRCh37	CM010464|CM900209	TP53	M	rs121912656	.						151.0	113.0	126.0					17																	7577547		2203	4300	6503	SO:0001583	missense	7157	exon7	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	TTCATGCCGCCCA	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.734G>A	chr17.hg19:g.7577547C>T	ENSP00000269305:p.Gly245Asp	128.0	0.0		104.0	61.0	NM_000546	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	hg19	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.838149	0.91117	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99900	-7.62;-7.62;-7.62;-7.62;-7.62;-7.62;-7.62;-7.62	4.62	4.62	0.57501	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99898	0.9951	M	0.91920	3.255	0.80722	A	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.999;0.999;1.0;0.999;1.0;1.0	D	0.96045	0.9027	9	0.87932	D	0	-19.4293	15.3618	0.74483	0.0:1.0:0.0:0.0	.	245;245;152;245;245;245	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	D	245;245;245;245;245;245;234;152;113;152	ENSP00000410739:G245D;ENSP00000352610:G245D;ENSP00000269305:G245D;ENSP00000398846:G245D;ENSP00000391127:G245D;ENSP00000391478:G245D;ENSP00000425104:G113D;ENSP00000423862:G152D	ENSP00000269305:G245D	G	-	2	0	TP53	7518272	1.000000	0.71417	0.997000	0.53966	0.973000	0.67179	7.609000	0.82925	2.564000	0.86499	0.462000	0.41574	GGC	.	.		0.582	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
ZNF286B	729288	hgsc.bcm.edu	37	17	18565670	18565670	+	Silent	SNP	A	A	G			TCGA-2Y-A9H8-01A-11D-A38X-10	TCGA-2Y-A9H8-10A-01D-A38X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a8ce4db3-59d7-41a4-bd0d-d6dc39a003e4	ea9d6487-fc5c-429d-9870-af174a03bd4d	g.chr17:18565670A>G	ENST00000545289.1	-	5	1399	c.1149T>C	c.(1147-1149)taT>taC	p.Y383Y	ZNF286B_ENST00000285274.5_3'UTR	NM_001145045.1	NP_001138517.1	P0CG31	Z286B_HUMAN	zinc finger protein 286B	383					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|lung(1)	2						CTTGACATTTATAAGGTTTCT	0.378																																					p.Y383Y		Atlas-SNP	.											.	ZNF286B	75	.	0			c.T1149C						.						9.0	10.0	9.0					17																	18565670		688	1572	2260	SO:0001819	synonymous_variant	729288	exon5			ACATTTATAAGGT		CCDS58523.1	17p11.2	2013-01-08			ENSG00000249459	ENSG00000249459		"""Zinc fingers, C2H2-type"""	33241	protein-coding gene	gene with protein product	"""zinc finger protein 590"""		"""zinc finger protein 286-like"", ""zinc finger 286C pseudogene"""	ZNF286L, ZNF286C			Standard	NM_001145045		Approved	ZNF590	uc010vyd.1	P0CG31	OTTHUMG00000178136	ENST00000545289.1:c.1149T>C	chr17.hg19:g.18565670A>G		233.0	0.0		235.0	100.0	NM_001145045		Silent	SNP	ENST00000545289.1	hg19	CCDS58523.1																																																																																			.	.		0.378	ZNF286B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_001723047	
KRT38	8687	hgsc.bcm.edu	37	17	39597054	39597054	+	Silent	SNP	A	A	G			TCGA-2Y-A9H8-01A-11D-A38X-10	TCGA-2Y-A9H8-10A-01D-A38X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a8ce4db3-59d7-41a4-bd0d-d6dc39a003e4	ea9d6487-fc5c-429d-9870-af174a03bd4d	g.chr17:39597054A>G	ENST00000246646.3	-	1	119	c.120T>C	c.(118-120)atT>atC	p.I40I		NM_006771.3	NP_006762.3	O76015	KRT38_HUMAN	keratin 38	40	Head.					extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29		Breast(137;0.000496)				ACATGGGGGCAATGTTGGCCT	0.637																																					p.I40I		Atlas-SNP	.											.	KRT38	63	.	0			c.T120C						.						50.0	52.0	52.0					17																	39597054		2203	4300	6503	SO:0001819	synonymous_variant	8687	exon1			GGGGGCAATGTTG	Y16794	CCDS11392.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000171360	ENSG00000171360		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6456	protein-coding gene	gene with protein product		604542	"""keratin, hair, acidic, 8"""	KRTHA8		9756910, 16831889	Standard	NM_006771		Approved		uc002hwq.1	O76015	OTTHUMG00000133439	ENST00000246646.3:c.120T>C	chr17.hg19:g.39597054A>G		126.0	0.0		146.0	38.0	NM_006771	A2RRM5|Q6A164	Silent	SNP	ENST00000246646.3	hg19	CCDS11392.1																																																																																			.	.		0.637	KRT38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257307.2	NM_006771	
KLHL11	55175	hgsc.bcm.edu	37	17	40021606	40021606	+	Silent	SNP	C	C	T			TCGA-2Y-A9H8-01A-11D-A38X-10	TCGA-2Y-A9H8-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a8ce4db3-59d7-41a4-bd0d-d6dc39a003e4	ea9d6487-fc5c-429d-9870-af174a03bd4d	g.chr17:40021606C>T	ENST00000319121.3	-	1	78	c.18G>A	c.(16-18)gtG>gtA	p.V6V	ACLY_ENST00000588779.1_5'Flank	NM_018143.1	NP_060613.1	Q9NVR0	KLH11_HUMAN	kelch-like family member 11	6										NS(2)|breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17		Breast(137;0.00156)				ccgccgccgccactgccgcag	0.692																																					p.V6V		Atlas-SNP	.											.	KLHL11	44	.	0			c.G18A						.						2.0	2.0	2.0					17																	40021606		624	1581	2205	SO:0001819	synonymous_variant	55175	exon1			CGCCGCCACTGCC		CCDS11411.1	17q21	2013-01-30	2013-01-30		ENSG00000178502	ENSG00000178502		"""Kelch-like"", ""BTB/POZ domain containing"""	19008	protein-coding gene	gene with protein product			"""kelch-like 11 (Drosophila)"""				Standard	NM_018143		Approved	FLJ10572	uc002hyf.1	Q9NVR0	OTTHUMG00000133506	ENST00000319121.3:c.18G>A	chr17.hg19:g.40021606C>T		17.0	0.0		24.0	5.0	NM_018143		Silent	SNP	ENST00000319121.3	hg19	CCDS11411.1																																																																																			.	.		0.692	KLHL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257464.2	NM_018143	
HDAC5	10014	hgsc.bcm.edu	37	17	42157529	42157529	+	Missense_Mutation	SNP	C	C	G			TCGA-2Y-A9H8-01A-11D-A38X-10	TCGA-2Y-A9H8-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a8ce4db3-59d7-41a4-bd0d-d6dc39a003e4	ea9d6487-fc5c-429d-9870-af174a03bd4d	g.chr17:42157529C>G	ENST00000393622.2	-	23	3221	c.2890G>C	c.(2890-2892)Gat>Cat	p.D964H	HDAC5_ENST00000336057.5_Missense_Mutation_p.D879H|HDAC5_ENST00000586802.1_Missense_Mutation_p.D964H|HDAC5_ENST00000225983.6_Missense_Mutation_p.D965H	NM_001015053.1|NM_005474.4	NP_001015053.1|NP_005465.2	Q9UQL6	HDAC5_HUMAN	histone deacetylase 5	964	Histone deacetylase.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|chromatin silencing (GO:0006342)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|inflammatory response (GO:0006954)|multicellular organismal response to stress (GO:0033555)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|osteoblast development (GO:0002076)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of gene expression, epigenetic (GO:0040029)|regulation of myotube differentiation (GO:0010830)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|histone deacetylase complex (GO:0000118)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|histone deacetylase activity (GO:0004407)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.118)		TCAACAGCATCAAACCCGGCG	0.562																																					p.D965H		Atlas-SNP	.											.	HDAC5	67	.	0			c.G2893C						.						153.0	120.0	131.0					17																	42157529		2203	4300	6503	SO:0001583	missense	10014	exon23			CAGCATCAAACCC	AF249731	CCDS32663.1, CCDS45696.1	17q21	2008-07-18					3.5.1.98		14068	protein-coding gene	gene with protein product		605315				10220385, 9610721	Standard	XM_005256905		Approved	KIAA0600, NY-CO-9, FLJ90614	uc002iff.1	Q9UQL6		ENST00000393622.2:c.2890G>C	chr17.hg19:g.42157529C>G	ENSP00000377244:p.Asp964His	63.0	0.0		67.0	18.0	NM_001015053	C9JFV9|O60340|O60528|Q96DY4	Missense_Mutation	SNP	ENST00000393622.2	hg19	CCDS45696.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.559032	0.86335	.	.	ENSG00000108840	ENST00000225983;ENST00000393622;ENST00000336057	D;D;D	0.91843	-2.92;-2.92;-2.92	4.92	4.92	0.64577	Histone deacetylase domain (2);	0.000000	0.85682	D	0.000000	D	0.98204	0.9406	H	0.99874	4.875	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.99585	1.0974	10	0.87932	D	0	-13.6106	17.0541	0.86529	0.0:1.0:0.0:0.0	.	879;965;964	Q9UQL6-2;Q9UQL6-3;Q9UQL6	.;.;HDAC5_HUMAN	H	965;964;879	ENSP00000225983:D965H;ENSP00000377244:D964H;ENSP00000337290:D879H	ENSP00000225983:D965H	D	-	1	0	HDAC5	39513055	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.609000	0.82925	2.560000	0.86352	0.655000	0.94253	GAT	.	.		0.562	HDAC5-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457686.1	NM_001015053	
ACE	1636	hgsc.bcm.edu	37	17	61568652	61568652	+	Nonsense_Mutation	SNP	G	G	A			TCGA-2Y-A9H8-01A-11D-A38X-10	TCGA-2Y-A9H8-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a8ce4db3-59d7-41a4-bd0d-d6dc39a003e4	ea9d6487-fc5c-429d-9870-af174a03bd4d	g.chr17:61568652G>A	ENST00000290866.4	+	19	2846	c.2822G>A	c.(2821-2823)tGg>tAg	p.W941*	ACE_ENST00000577647.1_Nonsense_Mutation_p.W367*|ACE_ENST00000290863.6_Nonsense_Mutation_p.W367*|ACE_ENST00000490216.2_Nonsense_Mutation_p.W367*|ACE_ENST00000421982.2_Nonsense_Mutation_p.W187*|ACE_ENST00000413513.3_Nonsense_Mutation_p.W367*|ACE_ENST00000428043.1_Nonsense_Mutation_p.W941*	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	941	Peptidase M2 2.				angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|arachidonic acid secretion (GO:0050482)|blood vessel remodeling (GO:0001974)|cellular protein metabolic process (GO:0044267)|hematopoietic stem cell differentiation (GO:0060218)|hormone catabolic process (GO:0042447)|kidney development (GO:0001822)|mononuclear cell proliferation (GO:0032943)|peptide catabolic process (GO:0043171)|regulation of blood pressure (GO:0008217)|regulation of renal output by angiotensin (GO:0002019)|regulation of smooth muscle cell migration (GO:0014910)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|bradykinin receptor binding (GO:0031711)|carboxypeptidase activity (GO:0004180)|chloride ion binding (GO:0031404)|drug binding (GO:0008144)|endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|peptidyl-dipeptidase activity (GO:0008241)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Candoxatril(DB00616)|Captopril(DB01197)|Cilazapril(DB01340)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	CCTGAGTTCTGGAACAAGTCG	0.607																																					p.W941X		Atlas-SNP	.											.	ACE	187	.	0			c.G2822A						.						64.0	65.0	65.0					17																	61568652		2203	4300	6503	SO:0001587	stop_gained	1636	exon19			AGTTCTGGAACAA	J04144	CCDS11637.1, CCDS45755.1, CCDS54155.1	17q23.3	2013-06-12	2013-06-12		ENSG00000159640	ENSG00000159640	3.4.15.1	"""CD molecules"""	2707	protein-coding gene	gene with protein product	"""peptidyl-dipeptidase A"""	106180	"""angiotensin I converting enzyme (peptidyl-dipeptidase A) 1"""	DCP1		2554286, 10319862	Standard	NM_001178057		Approved	ACE1, CD143	uc002jau.2	P12821	OTTHUMG00000154927	ENST00000290866.4:c.2822G>A	chr17.hg19:g.61568652G>A	ENSP00000290866:p.Trp941*	62.0	0.0		84.0	17.0	NM_000789	B0LPF0|B4DXI3|E7EU16|P22966|Q53YX9|Q59GY8|Q7M4L4	Nonsense_Mutation	SNP	ENST00000290866.4	hg19	CCDS11637.1	.	.	.	.	.	.	.	.	.	.	G	38	6.911983	0.97928	.	.	ENSG00000159640	ENST00000290866;ENST00000428043;ENST00000290863;ENST00000413513;ENST00000421982	.	.	.	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-20.5004	19.1504	0.93485	0.0:0.0:1.0:0.0	.	.	.	.	X	941;941;367;367;187	.	ENSP00000290863:W367X	W	+	2	0	ACE	58922384	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.864000	0.99589	2.498000	0.84270	0.561000	0.74099	TGG	.	.		0.607	ACE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337675.2		
ERN1	2081	hgsc.bcm.edu	37	17	62135324	62135324	+	Missense_Mutation	SNP	T	T	G			TCGA-2Y-A9H8-01A-11D-A38X-10	TCGA-2Y-A9H8-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a8ce4db3-59d7-41a4-bd0d-d6dc39a003e4	ea9d6487-fc5c-429d-9870-af174a03bd4d	g.chr17:62135324T>G	ENST00000433197.3	-	12	1331	c.1236A>C	c.(1234-1236)gaA>gaC	p.E412D		NM_001433.3	NP_001424.3			endoplasmic reticulum to nucleus signaling 1											central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						TAGGTGCGTTTTCTGAAGTCT	0.557																																					p.E412D		Atlas-SNP	.											.	ERN1	102	.	0			c.A1236C						.						45.0	48.0	47.0					17																	62135324		2014	4164	6178	SO:0001583	missense	2081	exon12			TGCGTTTTCTGAA	AF059198	CCDS45762.1	17q23	2011-08-12	2007-08-14			ENSG00000178607			3449	protein-coding gene	gene with protein product	"""inositol-requiring enzyme 1"""	604033	"""ER to nucleus signalling 1"""			9637683	Standard	NM_001433		Approved	IRE1, IRE1P	uc002jdz.2	O75460		ENST00000433197.3:c.1236A>C	chr17.hg19:g.62135324T>G	ENSP00000401445:p.Glu412Asp	99.0	0.0		72.0	28.0	NM_001433		Missense_Mutation	SNP	ENST00000433197.3	hg19	CCDS45762.1	.	.	.	.	.	.	.	.	.	.	T	11.87	1.769114	0.31320	.	.	ENSG00000178607	ENST00000433197	T	0.59906	0.23	5.37	-1.2	0.09554	.	0.733470	0.13846	N	0.358718	T	0.35128	0.0921	N	0.22421	0.69	0.19300	N	0.999977	B	0.02656	0.0	B	0.01281	0.0	T	0.16778	-1.0391	10	0.20519	T	0.43	-2.3521	6.6717	0.23072	0.0:0.4218:0.1389:0.4394	.	412	O75460	ERN1_HUMAN	D	412	ENSP00000401445:E412D	ENSP00000401445:E412D	E	-	3	2	ERN1	59489056	0.851000	0.29673	0.122000	0.21767	0.800000	0.45204	0.123000	0.15708	-0.260000	0.09418	0.459000	0.35465	GAA	.	.		0.557	ERN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443734.2	NM_001433	
CANT1	124583	hgsc.bcm.edu	37	17	76993228	76993228	+	Silent	SNP	C	C	T	rs149367726		TCGA-2Y-A9H8-01A-11D-A38X-10	TCGA-2Y-A9H8-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a8ce4db3-59d7-41a4-bd0d-d6dc39a003e4	ea9d6487-fc5c-429d-9870-af174a03bd4d	g.chr17:76993228C>T	ENST00000302345.2	-	2	971	c.477G>A	c.(475-477)gcG>gcA	p.A159A	CANT1_ENST00000591732.1_5'Flank|CANT1_ENST00000591773.1_Silent_p.A159A|CANT1_ENST00000392446.5_Silent_p.A159A	NM_001159773.1|NM_138793.3	NP_001153245.1|NP_620148.1	Q8WVQ1	CANT1_HUMAN	calcium activated nucleotidase 1	159					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|proteoglycan biosynthetic process (GO:0030166)|signal transduction (GO:0007165)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|signal transducer activity (GO:0004871)|uridine-diphosphatase activity (GO:0045134)		CANT1/ETV4(3)	cervix(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			TCCCCTTCTCCGCCAGGTGGG	0.567			T	ETV4	prostate																																p.A159A		Atlas-SNP	.		Dom	yes		17	17q25	124583	calcium activated nucleotidase 1		E	.	CANT1	39	.	0			c.G477A						.	C	,,	1,4405	2.1+/-5.4	0,1,2202	120.0	121.0	121.0		477,477,477	-10.5	0.2	17	dbSNP_134	121	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	CANT1	NM_001159772.1,NM_001159773.1,NM_138793.3	,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,	159/402,159/402,159/402	76993228	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	124583	exon4			CTTCTCCGCCAGG	AJ312208	CCDS11760.1	17q25.3	2008-02-05	2004-10-12	2004-10-15		ENSG00000171302			19721	protein-coding gene	gene with protein product	"""Soluble Ca-Activated Nucleotidase, isozyme 1"""	613165				12167635	Standard	NM_138793		Approved	SHAPY, SCAN-1	uc002jwk.3	Q8WVQ1		ENST00000302345.2:c.477G>A	chr17.hg19:g.76993228C>T		116.0	0.0		113.0	31.0	NM_001159772	B4DJ54|Q7Z2J7|Q8NG05|Q8NHP0|Q9BSD5	Silent	SNP	ENST00000302345.2	hg19	CCDS11760.1																																																																																			.	C|1.000;T|0.000		0.567	CANT1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437723.2	NM_138793	
MEX3C	51320	hgsc.bcm.edu	37	18	48703513	48703513	+	5'UTR	SNP	T	T	A	rs140545981		TCGA-2Y-A9H8-01A-11D-A38X-10	TCGA-2Y-A9H8-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a8ce4db3-59d7-41a4-bd0d-d6dc39a003e4	ea9d6487-fc5c-429d-9870-af174a03bd4d	g.chr18:48703513T>A	ENST00000591040.1	-	0	476							Q5U5Q3	MEX3C_HUMAN	mex-3 RNA binding family member C						chondrocyte hypertrophy (GO:0003415)|energy homeostasis (GO:0097009)|regulation of fat cell differentiation (GO:0045598)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|lung(11)|ovary(1)|skin(1)	17		Colorectal(6;0.003)|all_epithelial(6;0.0473)		Colorectal(16;0.0175)|READ - Rectum adenocarcinoma(32;0.15)		CTATATAGTTTCCTGTACGCA	0.453																																					p.G396G		Atlas-SNP	.											.	MEX3C	77	.	0			c.A1188T						.	T		0,4406		0,0,2203	131.0	123.0	126.0		1188	3.5	1.0	18	dbSNP_134	126	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	MEX3C	NM_016626.4		0,1,6502	AA,AT,TT		0.0116,0.0,0.0077		396/660	48703513	1,13005	2203	4300	6503	SO:0001623	5_prime_UTR_variant	51320	exon2			ATAGTTTCCTGTA	BC041122	CCDS11951.2	18q21.1	2013-08-21	2013-08-21	2007-07-18	ENSG00000176624	ENSG00000176624		"""RING-type (C3HC4) zinc fingers"", ""Mex-3 homologs"""	28040	protein-coding gene	gene with protein product		611005	"""ring finger and KH domain containing 2"", ""mex-3 homolog C (C. elegans)"""	RKHD2		17267406	Standard	NM_016626		Approved	FLJ38871, RNF194	uc002lfc.4	Q5U5Q3	OTTHUMG00000132693	ENST00000591040.1:c.-323A>T	chr18.hg19:g.48703513T>A		42.0	0.0		74.0	36.0	NM_016626	A1L022|Q9NZE3	Silent	SNP	ENST00000591040.1	hg19																																																																																				.	T|1.000;A|0.000		0.453	MEX3C-003	KNOWN	mRNA_end_NF|basic	processed_transcript	protein_coding	OTTHUMT00000449559.1	NM_016626	
PTBP1	5725	hgsc.bcm.edu	37	19	806459	806459	+	Missense_Mutation	SNP	C	C	T	rs375905582		TCGA-2Y-A9H8-01A-11D-A38X-10	TCGA-2Y-A9H8-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a8ce4db3-59d7-41a4-bd0d-d6dc39a003e4	ea9d6487-fc5c-429d-9870-af174a03bd4d	g.chr19:806459C>T	ENST00000349038.4	+	9	1017	c.944C>T	c.(943-945)tCg>tTg	p.S315L	PTBP1_ENST00000356948.6_Missense_Mutation_p.S341L|MIR4745_ENST00000577608.1_RNA|PTBP1_ENST00000350092.4_Intron|PTBP1_ENST00000394601.4_Missense_Mutation_p.S334L	NM_031991.3	NP_114368.1	P26599	PTBP1_HUMAN	polypyrimidine tract binding protein 1	315					alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|negative regulation of muscle cell differentiation (GO:0051148)|negative regulation of RNA splicing (GO:0033119)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly-pyrimidine tract binding (GO:0008187)|pre-mRNA binding (GO:0036002)|RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)	19		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCATCCCCTCGGCGGCGGCG	0.697																																					p.S341L		Atlas-SNP	.											.	PTBP1	43	.	0			c.C1022T						.						14.0	16.0	15.0					19																	806459		2188	4269	6457	SO:0001583	missense	5725	exon10			TCCCCTCGGCGGC	X60648	CCDS32859.1, CCDS42456.1, CCDS45892.1	19p13.3	2013-07-16	2002-01-25	2002-01-25	ENSG00000011304	ENSG00000011304		"""RNA binding motif (RRM) containing"""	9583	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein I"""	600693	"""polypyrimidine tract binding protein (heterogeneous nuclear ribonucleoprotein I)"""	PTB		1906036, 11024286	Standard	NM_002819		Approved	HNRPI, HNRNP-I, PTB2, PTB3, PTB-1, PTB4, pPTB	uc002lpp.2	P26599		ENST00000349038.4:c.944C>T	chr19.hg19:g.806459C>T	ENSP00000014112:p.Ser315Leu	196.0	0.0		205.0	58.0	NM_002819	Q9BUQ0	Missense_Mutation	SNP	ENST00000349038.4	hg19	CCDS32859.1	.	.	.	.	.	.	.	.	.	.	C	6.549	0.469532	0.12461	.	.	ENSG00000011304	ENST00000356948;ENST00000394601;ENST00000349038	T;T;T	0.47528	0.84;0.86;1.13	4.2	3.16	0.36331	.	0.506824	0.20455	N	0.092014	T	0.30978	0.0782	L	0.43152	1.355	0.22266	N	0.999248	B;B;B	0.34399	0.003;0.039;0.452	B;B;B	0.23716	0.002;0.008;0.048	T	0.13282	-1.0515	10	0.10902	T	0.67	-3.3526	9.5598	0.39362	0.0:0.8929:0.0:0.1071	.	315;334;341	P26599;P26599-2;Q9BUQ0	PTBP1_HUMAN;.;.	L	341;334;315	ENSP00000349428:S341L;ENSP00000408096:S334L;ENSP00000014112:S315L	ENSP00000014112:S315L	S	+	2	0	PTBP1	757459	0.997000	0.39634	0.024000	0.17045	0.015000	0.08874	3.978000	0.56881	0.747000	0.32809	0.563000	0.77884	TCG	.	.		0.697	PTBP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457605.1		
APBA3	9546	hgsc.bcm.edu	37	19	3759745	3759745	+	Missense_Mutation	SNP	T	T	G			TCGA-2Y-A9H8-01A-11D-A38X-10	TCGA-2Y-A9H8-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a8ce4db3-59d7-41a4-bd0d-d6dc39a003e4	ea9d6487-fc5c-429d-9870-af174a03bd4d	g.chr19:3759745T>G	ENST00000316757.3	-	2	718	c.518A>C	c.(517-519)gAa>gCa	p.E173A	MRPL54_ENST00000330133.4_5'Flank	NM_004886.3	NP_004877.1	O96018	APBA3_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 3	173					in utero embryonic development (GO:0001701)|negative regulation of catalytic activity (GO:0043086)|protein transport (GO:0015031)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	perinuclear region of cytoplasm (GO:0048471)	beta-amyloid binding (GO:0001540)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)			endometrium(1)|large_intestine(1)|skin(1)	3		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00467)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGCCAGGGTTCCGGGGAACT	0.662																																					p.E173A		Atlas-SNP	.											.	APBA3	28	.	0			c.A518C						.						27.0	32.0	30.0					19																	3759745		2203	4297	6500	SO:0001583	missense	9546	exon2			CAGGGTTCCGGGG	AB021638	CCDS12110.1	19p13.3	2008-07-18	2008-07-18			ENSG00000011132			580	protein-coding gene	gene with protein product	"""X11-like 2"""	604262				10049767	Standard	NM_004886		Approved	X11L2, mint3	uc002lyp.1	O96018		ENST00000316757.3:c.518A>C	chr19.hg19:g.3759745T>G	ENSP00000315136:p.Glu173Ala	109.0	0.0		89.0	35.0	NM_004886	O60483|Q9UPZ2	Missense_Mutation	SNP	ENST00000316757.3	hg19	CCDS12110.1	.	.	.	.	.	.	.	.	.	.	T	14.98	2.695838	0.48202	.	.	ENSG00000011132	ENST00000316757	T	0.08102	3.13	4.69	4.69	0.59074	.	0.135912	0.28635	N	0.014652	T	0.17577	0.0422	L	0.34521	1.04	0.39725	D	0.971525	D	0.63880	0.993	D	0.74674	0.984	T	0.01743	-1.1283	10	0.62326	D	0.03	.	11.5285	0.50595	0.0:0.0:0.0:1.0	.	173	O96018	APBA3_HUMAN	A	173	ENSP00000315136:E173A	ENSP00000315136:E173A	E	-	2	0	APBA3	3710745	0.787000	0.28750	0.495000	0.27527	0.506000	0.33950	1.603000	0.36794	1.761000	0.52028	0.459000	0.35465	GAA	.	.		0.662	APBA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453634.2		
MUC16	94025	hgsc.bcm.edu	37	19	9074291	9074291	+	Silent	SNP	C	C	A			TCGA-2Y-A9H8-01A-11D-A38X-10	TCGA-2Y-A9H8-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a8ce4db3-59d7-41a4-bd0d-d6dc39a003e4	ea9d6487-fc5c-429d-9870-af174a03bd4d	g.chr19:9074291C>A	ENST00000397910.4	-	3	13358	c.13155G>T	c.(13153-13155)gtG>gtT	p.V4385V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4387	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGGTGATGGTCACTCCTGAAG	0.473																																					p.V4385V		Atlas-SNP	.											.	MUC16	4315	.	0			c.G13155T						.						134.0	132.0	132.0					19																	9074291		2053	4182	6235	SO:0001819	synonymous_variant	94025	exon3			GATGGTCACTCCT	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.13155G>T	chr19.hg19:g.9074291C>A		105.0	0.0		160.0	13.0	NM_024690	Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	hg19	CCDS54212.1																																																																																			.	.		0.473	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
CRTC1	23373	hgsc.bcm.edu	37	19	18870874	18870874	+	Missense_Mutation	SNP	A	A	T			TCGA-2Y-A9H8-01A-11D-A38X-10	TCGA-2Y-A9H8-10A-01D-A38X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a8ce4db3-59d7-41a4-bd0d-d6dc39a003e4	ea9d6487-fc5c-429d-9870-af174a03bd4d	g.chr19:18870874A>T	ENST00000321949.8	+	8	748	c.722A>T	c.(721-723)aAc>aTc	p.N241I	CRTC1_ENST00000594658.1_Missense_Mutation_p.N200I|CRTC1_ENST00000338797.6_Missense_Mutation_p.N257I|CRTC1_ENST00000601916.1_Missense_Mutation_p.N166I	NM_015321.2	NP_056136.2			CREB regulated transcription coactivator 1										CRTC1/MAML2(516)	NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	19						GCCACCCACAACACAGGGGGG	0.667																																					p.N257I		Atlas-SNP	.											.	CRTC1	88	.	0			c.A770T						.						99.0	113.0	108.0					19																	18870874		2203	4300	6503	SO:0001583	missense	23373	exon9			CCCACAACACAGG	AY040323	CCDS32963.1, CCDS42525.1	19p13	2012-07-31	2005-11-24	2005-11-24					16062	protein-coding gene	gene with protein product	"""transducer of regulated cAMP response element-binding protein"""	607536	"""mucoepidermoid carcinoma translocated 1"""	MECT1		12539049, 14536081, 14506290	Standard	NM_015321		Approved	KIAA0616, FLJ14027, TORC1	uc010ebv.3	Q6UUV9		ENST00000321949.8:c.722A>T	chr19.hg19:g.18870874A>T	ENSP00000323332:p.Asn241Ile	245.0	0.0		231.0	52.0	NM_001098482		Missense_Mutation	SNP	ENST00000321949.8	hg19	CCDS32963.1	.	.	.	.	.	.	.	.	.	.	a	16.44	3.124550	0.56613	.	.	ENSG00000105662	ENST00000262813;ENST00000338797;ENST00000321949	T;T	0.55588	0.51;0.51	4.59	4.59	0.56863	Transducer of regulated CREB activity, middle domain (1);	0.091344	0.85682	N	0.000000	T	0.51210	0.1661	M	0.64997	1.995	0.51012	D	0.999908	P;B;P	0.42785	0.79;0.427;0.63	B;B;B	0.42625	0.377;0.331;0.393	T	0.57429	-0.7813	10	0.87932	D	0	-21.4334	9.4489	0.38714	0.9124:0.0:0.0876:0.0	.	241;257;241	Q6UUV9-3;Q6UUV9-2;Q6UUV9	.;.;CRTC1_HUMAN	I	241;257;241	ENSP00000345001:N257I;ENSP00000323332:N241I	ENSP00000262813:N241I	N	+	2	0	CRTC1	18731874	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	4.961000	0.63681	1.719000	0.51432	0.375000	0.23000	AAC	.	.		0.667	CRTC1-002	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465151.3	NM_025021	
PPP5C	5536	hgsc.bcm.edu	37	19	46893387	46893387	+	Missense_Mutation	SNP	G	G	C			TCGA-2Y-A9H8-01A-11D-A38X-10	TCGA-2Y-A9H8-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a8ce4db3-59d7-41a4-bd0d-d6dc39a003e4	ea9d6487-fc5c-429d-9870-af174a03bd4d	g.chr19:46893387G>C	ENST00000012443.4	+	12	1538	c.1435G>C	c.(1435-1437)Gtg>Ctg	p.V479L	AC007193.8_ENST00000598616.1_RNA|PPP5C_ENST00000391919.1_Missense_Mutation_p.V351L	NM_006247.3	NP_006238.1	P53041	PPP5_HUMAN	protein phosphatase 5, catalytic subunit	479	Catalytic.				cell death (GO:0008219)|DNA repair (GO:0006281)|mitotic nuclear division (GO:0007067)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein dephosphorylation (GO:0006470)|protein heterooligomerization (GO:0051291)|response to morphine (GO:0043278)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|RNA binding (GO:0003723)|signal transducer activity (GO:0004871)			endometrium(4)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|pancreas(1)	18		Ovarian(192;0.0731)|all_neural(266;0.196)		OV - Ovarian serous cystadenocarcinoma(262;0.000196)|all cancers(93;0.00192)|GBM - Glioblastoma multiforme(486;0.0499)|Epithelial(262;0.0504)		GTTCACAGCAGTGGTGAGTCA	0.637																																					p.V479L		Atlas-SNP	.											.	PPP5C	44	.	0			c.G1435C						.						121.0	96.0	105.0					19																	46893387		2203	4300	6503	SO:0001583	missense	5536	exon12			ACAGCAGTGGTGA		CCDS12684.1	19q13.3	2013-01-10			ENSG00000011485	ENSG00000011485	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	9322	protein-coding gene	gene with protein product		600658		PPP5		8666404	Standard	NM_006247		Approved	PP5	uc002pem.3	P53041	OTTHUMG00000134287	ENST00000012443.4:c.1435G>C	chr19.hg19:g.46893387G>C	ENSP00000012443:p.Val479Leu	112.0	0.0		131.0	34.0	NM_006247	Q16722|Q53XV2	Missense_Mutation	SNP	ENST00000012443.4	hg19	CCDS12684.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.915482	0.92178	.	.	ENSG00000011485	ENST00000012443;ENST00000451918;ENST00000391919	T;T	0.05319	3.46;3.46	5.46	5.46	0.80206	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (1);	0.000000	0.85682	D	0.000000	T	0.13884	0.0336	M	0.85542	2.76	0.80722	D	1	P;P	0.47841	0.899;0.901	B;B	0.39419	0.132;0.299	T	0.03103	-1.1072	10	0.59425	D	0.04	-21.0563	16.7989	0.85609	0.0:0.0:1.0:0.0	.	479;479	B2R6R6;P53041	.;PPP5_HUMAN	L	479;466;351	ENSP00000012443:V479L;ENSP00000375786:V351L	ENSP00000012443:V479L	V	+	1	0	PPP5C	51585227	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	9.107000	0.94261	2.566000	0.86566	0.563000	0.77884	GTG	.	.		0.637	PPP5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258969.2	NM_006247	
SLC8A2	6543	hgsc.bcm.edu	37	19	47960453	47960453	+	Silent	SNP	C	C	T			TCGA-2Y-A9H8-01A-11D-A38X-10	TCGA-2Y-A9H8-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a8ce4db3-59d7-41a4-bd0d-d6dc39a003e4	ea9d6487-fc5c-429d-9870-af174a03bd4d	g.chr19:47960453C>T	ENST00000236877.6	-	3	1469	c.1074G>A	c.(1072-1074)acG>acA	p.T358T	SLC8A2_ENST00000542837.1_Silent_p.T114T|SLC8A2_ENST00000539381.1_Intron	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	358					blood coagulation (GO:0007596)|cell communication (GO:0007154)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium:sodium antiporter activity (GO:0005432)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		TCATCAGCCGCGTGGCCTGGA	0.716																																					p.T358T		Atlas-SNP	.											SLC8A2,colon,carcinoma,0,1	SLC8A2	77	.	0			c.G1074A						.						5.0	4.0	5.0					19																	47960453		2029	3878	5907	SO:0001819	synonymous_variant	6543	exon3			CAGCCGCGTGGCC	AB029010	CCDS33065.1	19q13.32	2013-07-15	2008-09-02		ENSG00000118160	ENSG00000118160		"""Solute carriers"""	11069	protein-coding gene	gene with protein product		601901				8021246	Standard	NM_015063		Approved	NCX2, KIAA1087	uc002pgx.3	Q9UPR5	OTTHUMG00000183529	ENST00000236877.6:c.1074G>A	chr19.hg19:g.47960453C>T		92.0	1.0		68.0	7.0	NM_015063	B4DYQ9	Silent	SNP	ENST00000236877.6	hg19	CCDS33065.1																																																																																			.	.		0.716	SLC8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466997.1		
CFAP61	26074	hgsc.bcm.edu	37	20	20150059	20150059	+	Missense_Mutation	SNP	C	C	A			TCGA-2Y-A9H8-01A-11D-A38X-10	TCGA-2Y-A9H8-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a8ce4db3-59d7-41a4-bd0d-d6dc39a003e4	ea9d6487-fc5c-429d-9870-af174a03bd4d	g.chr20:20150059C>A	ENST00000245957.5	+	13	1416	c.1340C>A	c.(1339-1341)aCc>aAc	p.T447N	C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000377309.2_5'UTR|C20orf26_ENST00000451767.2_Missense_Mutation_p.T447N|C20orf26_ENST00000377306.1_Missense_Mutation_p.T447N	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		447										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		AACACCTGCACCCTCGAGCAG	0.483																																					p.T447N		Atlas-SNP	.											.	C20orf26	188	.	0			c.C1340A						.						112.0	99.0	104.0					20																	20150059		2203	4300	6503	SO:0001583	missense	26074	exon13			CCTGCACCCTCGA																												ENST00000245957.5:c.1340C>A	chr20.hg19:g.20150059C>A	ENSP00000245957:p.Thr447Asn	121.0	0.0		188.0	34.0	NM_015585	A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7	Missense_Mutation	SNP	ENST00000245957.5	hg19	CCDS33447.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.06|13.06	2.124910|2.124910	0.37533|0.37533	.|.	.|.	ENSG00000089101|ENSG00000089101	ENST00000431753|ENST00000343997;ENST00000339482;ENST00000389655;ENST00000245957;ENST00000377306;ENST00000451767	.|T;T;T	.|0.12879	.|2.64;2.64;2.64	5.87|5.87	1.65|1.65	0.23941|0.23941	.|.	.|0.639077	.|0.16063	.|N	.|0.231362	T|T	0.23410|0.23410	0.0566|0.0566	L|L	0.49126|0.49126	1.545|1.545	0.80722|0.80722	D|D	1|1	.|D;B;P	.|0.76494	.|0.999;0.264;0.919	.|D;B;P	.|0.64877	.|0.93;0.149;0.504	T|T	0.02728|0.02728	-1.1118|-1.1118	5|10	.|0.29301	.|T	.|0.29	.|.	7.6774|7.6774	0.28494|0.28494	0.0:0.5999:0.2546:0.1455|0.0:0.5999:0.2546:0.1455	.|.	.|447;427;447	.|Q8NHU2-3;F8W6K4;Q8NHU2	.|.;.;CT026_HUMAN	T|N	13|387;41;427;447;447;447	.|ENSP00000245957:T447N;ENSP00000366521:T447N;ENSP00000414537:T447N	.|ENSP00000245957:T447N	P|T	+|+	1|2	0|0	C20orf26|C20orf26	20098059|20098059	0.474000|0.474000	0.25886|0.25886	0.964000|0.964000	0.40570|0.40570	0.014000|0.014000	0.08584|0.08584	0.709000|0.709000	0.25734|0.25734	0.456000|0.456000	0.26937|0.26937	-0.176000|-0.176000	0.13171|0.13171	CCC|ACC	.	.		0.483	C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078228.3		
ZDHHC15	158866	hgsc.bcm.edu	37	X	74644581	74644581	+	Silent	SNP	A	A	T			TCGA-2Y-A9H8-01A-11D-A38X-10	TCGA-2Y-A9H8-10A-01D-A38X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a8ce4db3-59d7-41a4-bd0d-d6dc39a003e4	ea9d6487-fc5c-429d-9870-af174a03bd4d	g.chrX:74644581A>T	ENST00000373367.3	-	8	872	c.642T>A	c.(640-642)ctT>ctA	p.L214L	ZDHHC15_ENST00000373361.3_Missense_Mutation_p.F174Y|ZDHHC15_ENST00000541184.1_Silent_p.L205L	NM_144969.2	NP_659406.1	Q96MV8	ZDH15_HUMAN	zinc finger, DHHC-type containing 15	214					establishment of protein localization (GO:0045184)|protein palmitoylation (GO:0018345)|synaptic vesicle maturation (GO:0016188)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(1)|lung(11)|ovary(2)|skin(2)	26						AGAGAAGAAAAAGGACATGGA	0.388																																					p.L214L		Atlas-SNP	.											.	ZDHHC15	65	.	0			c.T642A						.						85.0	62.0	70.0					X																	74644581		2203	4300	6503	SO:0001819	synonymous_variant	158866	exon8			AAGAAAAAGGACA	AK056374	CCDS14430.1, CCDS55454.1	Xq13.3	2008-05-02			ENSG00000102383	ENSG00000102383		"""Zinc fingers, DHHC-type"""	20342	protein-coding gene	gene with protein product		300576					Standard	NM_144969		Approved	FLJ31812, MRX91	uc004ecg.3	Q96MV8	OTTHUMG00000021866	ENST00000373367.3:c.642T>A	chrX.hg19:g.74644581A>T		580.0	0.0		677.0	441.0	NM_144969	B3KVG7|Q3SY30|Q6UWH3	Silent	SNP	ENST00000373367.3	hg19	CCDS14430.1	.	.	.	.	.	.	.	.	.	.	A	15.38	2.817808	0.50633	.	.	ENSG00000102383	ENST00000373361	T	0.47528	0.84	5.58	0.0606	0.14336	.	.	.	.	.	T	0.49864	0.1582	.	.	.	0.46185	D	0.99891	.	.	.	.	.	.	T	0.49263	-0.8958	6	0.72032	D	0.01	-3.893	5.6294	0.17501	0.5658:0.1378:0.2964:0.0	.	.	.	.	Y	174	ENSP00000362459:F174Y	ENSP00000362459:F174Y	F	-	2	0	ZDHHC15	74561306	1.000000	0.71417	0.998000	0.56505	0.973000	0.67179	1.125000	0.31332	0.025000	0.15241	0.486000	0.48141	TTT	.	.		0.388	ZDHHC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057283.1	NM_144969	
TAF9B	51616	hgsc.bcm.edu	37	X	77393577	77393577	+	Missense_Mutation	SNP	A	A	C			TCGA-2Y-A9H8-01A-11D-A38X-10	TCGA-2Y-A9H8-10A-01D-A38X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a8ce4db3-59d7-41a4-bd0d-d6dc39a003e4	ea9d6487-fc5c-429d-9870-af174a03bd4d	g.chrX:77393577A>C	ENST00000341864.5	-	3	246	c.152T>G	c.(151-153)cTg>cGg	p.L51R		NM_015975.4	NP_057059.2	Q9HBM6	TAF9B_HUMAN	TAF9B RNA polymerase II, TATA box binding protein (TBP)-associated factor, 31kDa	51					DNA-templated transcription, initiation (GO:0006352)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell growth (GO:0030307)|programmed cell death (GO:0012501)|protein stabilization (GO:0050821)|response to organic cyclic compound (GO:0014070)	transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	transcription corepressor activity (GO:0003714)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	14						TGCATCATCCAGAATTGTAGT	0.348																																					p.L51R		Atlas-SNP	.											.	TAF9B	30	.	0			c.T152G						.						96.0	83.0	88.0					X																	77393577		2203	4296	6499	SO:0001583	missense	51616	exon3			TCATCCAGAATTG	AF220509	CCDS35340.1	Xq13.1-q21.1	2010-08-16	2006-01-04	2006-01-04	ENSG00000187325	ENSG00000187325			17306	protein-coding gene	gene with protein product		300754	"""TAF9-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 31kDa"""	TAF9L		15899866	Standard	XM_005262142		Approved	TAFII31L, DN-7, DN7, TFIID-31	uc004eda.3	Q9HBM6	OTTHUMG00000021887	ENST00000341864.5:c.152T>G	chrX.hg19:g.77393577A>C	ENSP00000339917:p.Leu51Arg	365.0	1.0		282.0	182.0	NM_015975	B2RUZ9|Q9Y2S3	Missense_Mutation	SNP	ENST00000341864.5	hg19	CCDS35340.1	.	.	.	.	.	.	.	.	.	.	A	18.07	3.542286	0.65198	.	.	ENSG00000187325	ENST00000341864	T	0.60171	0.21	4.42	4.42	0.53409	Histone-fold (2);	0.075878	0.56097	D	0.000038	T	0.76407	0.3983	M	0.90650	3.135	0.52099	D	0.999947	D	0.63046	0.992	P	0.62089	0.898	T	0.81075	-0.1097	10	0.87932	D	0	-4.6992	10.9279	0.47201	1.0:0.0:0.0:0.0	.	51	Q9HBM6	TAF9B_HUMAN	R	51	ENSP00000339917:L51R	ENSP00000339917:L51R	L	-	2	0	TAF9B	77280233	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.635000	0.91006	1.544000	0.49359	0.417000	0.27973	CTG	.	.		0.348	TAF9B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057308.1	NM_015975	
NKAP	79576	hgsc.bcm.edu	37	X	119077493	119077493	+	Missense_Mutation	SNP	T	T	C			TCGA-2Y-A9H8-01A-11D-A38X-10	TCGA-2Y-A9H8-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a8ce4db3-59d7-41a4-bd0d-d6dc39a003e4	ea9d6487-fc5c-429d-9870-af174a03bd4d	g.chrX:119077493T>C	ENST00000371410.3	-	1	242	c.76A>G	c.(76-78)Aag>Gag	p.K26E		NM_024528.3	NP_078804.2	Q8N5F7	NKAP_HUMAN	NFKB activating protein	26	Ser-rich.				granulocyte differentiation (GO:0030851)|hematopoietic stem cell proliferation (GO:0071425)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|stem cell maintenance (GO:0019827)|T cell differentiation in thymus (GO:0033077)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)	20						TTCGGACTCTTCGACGAACTG	0.701																																					p.K26E		Atlas-SNP	.											.	NKAP	53	.	0			c.A76G						.						23.0	26.0	25.0					X																	119077493		2202	4297	6499	SO:0001583	missense	79576	exon1			GACTCTTCGACGA	BC012770	CCDS14592.1	Xq24	2010-07-20			ENSG00000101882	ENSG00000101882			29873	protein-coding gene	gene with protein product	"""NF kappaB activating protein"""	300766				14550261	Standard	NM_024528		Approved	FLJ22626	uc004esh.3	Q8N5F7	OTTHUMG00000022284	ENST00000371410.3:c.76A>G	chrX.hg19:g.119077493T>C	ENSP00000360464:p.Lys26Glu	229.0	0.0		156.0	109.0	NM_024528	Q6IPW6|Q96BQ2|Q9H638	Missense_Mutation	SNP	ENST00000371410.3	hg19	CCDS14592.1	.	.	.	.	.	.	.	.	.	.	t	9.027	0.986418	0.18889	.	.	ENSG00000101882	ENST00000371410	T	0.14144	2.53	4.23	-0.205	0.13196	.	0.898886	0.09692	N	0.768202	T	0.11324	0.0276	L	0.40543	1.245	0.09310	N	1	B	0.12013	0.005	B	0.14023	0.01	T	0.34950	-0.9808	10	0.31617	T	0.26	-0.344	9.1299	0.36839	0.0:0.0:0.5836:0.4164	.	26	Q8N5F7	NKAP_HUMAN	E	26	ENSP00000360464:K26E	ENSP00000360464:K26E	K	-	1	0	NKAP	118961521	0.000000	0.05858	0.003000	0.11579	0.018000	0.09664	0.151000	0.16283	0.108000	0.17862	0.438000	0.28831	AAG	.	.		0.701	NKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058072.1	NM_024528	
MCCC1	56922	hgsc.bcm.edu	37	3	182756812	182756832	+	Splice_Site	DEL	GATCACTCACATTGTACTGAC	GATCACTCACATTGTACTGAC	-	rs369847846|rs146689034		TCGA-2Y-A9H8-01A-11D-A38X-10	TCGA-2Y-A9H8-10A-01D-A38X-10	GATCACTCACATTGTACTGAC	GATCACTCACATTGTACTGAC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a8ce4db3-59d7-41a4-bd0d-d6dc39a003e4	ea9d6487-fc5c-429d-9870-af174a03bd4d	g.chr3:182756812_182756832delGATCACTCACATTGTACTGAC	ENST00000265594.4	-	12	1505_1524	c.1359_1378delGTCAGTACAATGTGAGTGATC	c.(1357-1380)tagtcagtacaatgtgagtgatct>tact	p.453_460*SVQCE*S>Y	MCCC1_ENST00000539926.1_Splice_Site_p.318_325*SVQCE*S>Y|MCCC1_ENST00000492597.1_Splice_Site_p.344_351*SVQCE*S>Y|MCCC1_ENST00000489909.1_5'Flank	NM_020166.3	NP_064551.3	Q96RQ3	MCCA_HUMAN	methylcrotonoyl-CoA carboxylase 1 (alpha)	453	Biotin carboxylation.				biotin metabolic process (GO:0006768)|branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|leucine catabolic process (GO:0006552)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)|methylcrotonoyl-CoA carboxylase activity (GO:0004485)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(17)|ovary(1)|pancreas(2)|prostate(1)|skin(2)	40	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		Biotin(DB00121)	CAGATCACTCACATTGTACTGACGAAGGCTGTACCTCAGTT	0.516																																					p.456_459del		Atlas-Indel,Pindel	.											.	MCCC1	87	.	0			c.1368_1377del						.																																			SO:0001630	splice_region_variant	56922	exon12			.	AF310972	CCDS3241.1	3q27.1	2010-04-30	2010-04-30		ENSG00000078070	ENSG00000078070	6.4.1.4		6936	protein-coding gene	gene with protein product		609010	"""methylcrotonoyl-Coenzyme A carboxylase 1 (alpha)"""			11170888	Standard	XR_241502		Approved	MCCA	uc003fle.3	Q96RQ3	OTTHUMG00000158355	ENST00000265594.4:c.1377+1GTCAGTACAATGTGAGTGATC>-	chr3.hg19:g.182756812_182756832delGATCACTCACATTGTACTGAC		116.0	0.0		158.0	32.0	NM_020166	Q59ES4|Q9H959|Q9NS97	Frame_Shift_Del	DEL	ENST00000265594.4	hg19	CCDS3241.1																																																																																			.	.		0.516	MCCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350775.1	NM_020166	In_Frame_Del
SLC12A5	57468	hgsc.bcm.edu	37	20	44650434	44650435	+	Frame_Shift_Ins	INS	-	-	C			TCGA-2Y-A9H8-01A-11D-A38X-10	TCGA-2Y-A9H8-10A-01D-A38X-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a8ce4db3-59d7-41a4-bd0d-d6dc39a003e4	ea9d6487-fc5c-429d-9870-af174a03bd4d	g.chr20:44650434_44650435insC	ENST00000454036.2	+	1	79_80	c.30_31insC	c.(31-33)cccfs	p.P11fs	RP11-465L10.10_ENST00000535913.1_RNA|RP11-465L10.10_ENST00000419897.1_RNA	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	11					cellular ion homeostasis (GO:0006873)|chloride transmembrane transport (GO:1902476)|ion transport (GO:0006811)|learning (GO:0007612)|multicellular organism growth (GO:0035264)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|thermosensory behavior (GO:0040040)|transmembrane transport (GO:0055085)|transport (GO:0006810)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	TCACCTCGCTGCCCCCCGCAGG	0.703																																					p.L10fs		Atlas-INDEL	.											.	SLC12A5	181	.	0			c.30_31insC						.																																			SO:0001589	frameshift_variant	57468	exon1			.	AB033002	CCDS13391.1, CCDS46610.1	20q13.12	2013-05-22	2010-04-20		ENSG00000124140	ENSG00000124140		"""Solute carriers"""	13818	protein-coding gene	gene with protein product		606726					Standard	NM_020708		Approved	KIAA1176, KCC2	uc010zxl.1	Q9H2X9	OTTHUMG00000032638	ENST00000454036.2:c.36dupC	chr20.hg19:g.44650440_44650440dupC	ENSP00000387694:p.Pro11fs	39.0	0.0		60.0	10.0	NM_001134771	A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Frame_Shift_Ins	INS	ENST00000454036.2	hg19	CCDS46610.1																																																																																			.	.		0.703	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000471538.1		
RASL11A	387496	hgsc.bcm.edu	37	13	27847361	27847361	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2Y-A9H8-01A-11D-A38X-10	TCGA-2Y-A9H8-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a8ce4db3-59d7-41a4-bd0d-d6dc39a003e4	ea9d6487-fc5c-429d-9870-af174a03bd4d	g.chr13:27847361delT	ENST00000241463.4	+	4	1077	c.459delT	c.(457-459)catfs	p.H153fs	RASL11A_ENST00000480803.1_3'UTR	NM_206827.1	NP_996563.1			RAS-like, family 11, member A											breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|prostate(1)	10		Lung SC(185;0.0161)	Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.0173)|GBM - Glioblastoma multiforme(144;0.0557)|OV - Ovarian serous cystadenocarcinoma(117;0.152)|Epithelial(112;0.164)		ACCTTTTGCATGCCCGGCAGG	0.537																																					p.H153fs		Atlas-Indel,Pindel	.											.	RASL11A	26	.	0			c.458delA						.						73.0	61.0	65.0					13																	27847361		2203	4300	6503	SO:0001589	frameshift_variant	387496	exon4			.	AY439004	CCDS9321.1	13q12.2	2014-05-09			ENSG00000122035	ENSG00000122035			23802	protein-coding gene	gene with protein product		612403				15033445	Standard	NM_206827		Approved		uc001urd.1	Q6T310	OTTHUMG00000016627	ENST00000241463.4:c.459delT	chr13.hg19:g.27847361delT	ENSP00000241463:p.His153fs	264.0	0.0		168.0	122.0	NM_206827		Frame_Shift_Del	DEL	ENST00000241463.4	hg19	CCDS9321.1																																																																																			.	.		0.537	RASL11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044265.2	NM_206827	
H6PD	9563	hgsc.bcm.edu	37	1	9323715	9323737	+	Frame_Shift_Del	DEL	CGGCGCAGAGCCAGTGCCTGCCC	CGGCGCAGAGCCAGTGCCTGCCC	-	rs199663762|rs139280233|rs149231638|rs147080717	byFrequency	TCGA-2Y-A9H8-01A-11D-A38X-10	TCGA-2Y-A9H8-10A-01D-A38X-10	CGGCGCAGAGCCAGTGCCTGCCC	CGGCGCAGAGCCAGTGCCTGCCC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a8ce4db3-59d7-41a4-bd0d-d6dc39a003e4	ea9d6487-fc5c-429d-9870-af174a03bd4d	g.chr1:9323715_9323737delCGGCGCAGAGCCAGTGCCTGCCC	ENST00000377403.2	+	5	1465_1487	c.1163_1185delCGGCGCAGAGCCAGTGCCTGCCC	c.(1162-1185)gcggcgcagagccagtgcctgcccfs	p.AAQSQCLP388fs	H6PD_ENST00000602477.1_Frame_Shift_Del_p.AAQSQCLP399fs	NM_001282587.1|NM_004285.3	NP_001269516.1|NP_004276.2	O95479	G6PE_HUMAN	hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	388	Glucose 1-dehydrogenase.				pentose-phosphate shunt (GO:0006098)|response to alcohol (GO:0097305)	endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)	6-phosphogluconolactonase activity (GO:0017057)|carbohydrate binding (GO:0030246)|glucose 1-dehydrogenase [NAD(P)] activity (GO:0047936)|glucose-6-phosphate dehydrogenase activity (GO:0004345)|NADP binding (GO:0050661)	p.A389A(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)		CACTGGGCCGCGGCGCAGAGCCAGTGCCTGCCCCGGCAGCTCG	0.641																																					p.388_395del		Atlas-Indel,Pindel	.											.	H6PD	71	.	1	Substitution - coding silent(1)	endometrium(1)	c.1162_1184del						.																																			SO:0001589	frameshift_variant	9563	exon5			.	AJ012590	CCDS101.1, CCDS72697.1	1p36	2008-02-05	2003-10-10		ENSG00000049239	ENSG00000049239	1.1.1.47		4795	protein-coding gene	gene with protein product		138090	"""glucose dehyrogenase"""	GDH		10349511	Standard	NM_001282587		Approved		uc001apt.3	O95479	OTTHUMG00000001768	ENST00000377403.2:c.1163_1185delCGGCGCAGAGCCAGTGCCTGCCC	chr1.hg19:g.9323715_9323737delCGGCGCAGAGCCAGTGCCTGCCC	ENSP00000366620:p.Ala388fs	150.0	0.0		153.0	46.0	NM_004285	Q4TT33|Q66I35|Q68DT3	Frame_Shift_Del	DEL	ENST00000377403.2	hg19	CCDS101.1																																																																																			.	.		0.641	H6PD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004928.2	NM_004285	
AKAP6	9472	hgsc.bcm.edu	37	14	32902724	32902725	+	Frame_Shift_Ins	INS	-	-	C			TCGA-2Y-A9H8-01A-11D-A38X-10	TCGA-2Y-A9H8-10A-01D-A38X-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a8ce4db3-59d7-41a4-bd0d-d6dc39a003e4	ea9d6487-fc5c-429d-9870-af174a03bd4d	g.chr14:32902724_32902725insC	ENST00000280979.4	+	2	195_196	c.25_26insC	c.(25-27)tccfs	p.S9fs	AKAP6_ENST00000554449.1_3'UTR|AKAP6_ENST00000557354.1_Frame_Shift_Ins_p.S9fs|AKAP6_ENST00000557272.1_Frame_Shift_Ins_p.S9fs	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	9					action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		CGTGACACTTTCCCCCCTGAGG	0.505																																					p.S9fs	Melanoma(49;821 1200 7288 13647 42351)	Atlas-Indel,Pindel	.											.	AKAP6	308	.	0			c.25_26insC						.																																			SO:0001589	frameshift_variant	9472	exon2			.	AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"""A-kinase anchor proteins"""	376	protein-coding gene	gene with protein product	"""protein kinase A anchoring protein 6"""	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.31dupC	chr14.hg19:g.32902730_32902730dupC	ENSP00000280979:p.Ser9fs	99.0	0.0		156.0	13.0	NM_004274	A7E242|A7E2D4|O15028	Frame_Shift_Ins	INS	ENST00000280979.4	hg19	CCDS9644.1																																																																																			.	.		0.505	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2	NM_004274	
